AKT1 (Entrez ID: 207)

Entrez Gene ID	207
Official Gene Symbol	AKT1 (GeneCards)
Full name	AKT serine/threonine kinase 1
Location	14q32.33
Other ids	Vega : OTTHUMG00000170795 MIM : 164730 HGNC : HGNC:391 Ensembl : ENSG00000142208
Other names	AKT, PKB, RAC, CWS6, PRKBA, PKB-ALPHA, RAC-ALPHA
Summary	The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]

Variants

Found 39 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
151	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP
152	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP
153	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP
154	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP
155	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP
156	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP
157	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP
158	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP
159	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP
160	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP
161	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP
162	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP
163	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP
164	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP
165	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP
166	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP
167	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP GAIIx
168	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP GAIIx
169	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP GAIIx
170	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP GAIIx
171	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP GAIIx
172	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP GAIIx
173	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP GAIIx
174	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP GAIIx
175	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP GAIIx
176	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP GAIIx
177	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP GAIIx
178	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP GAIIx
179	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP GAIIx
180	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP GAIIx
181	207	AKT1	14	105246551	105246551	Proteus syndrome	PCR RFLP GAIIx
1163	207	AKT1	14	105246551	105246551	Hemimegalencephaly	PCR RFLP GAIIx Sanger
30673	207	AKT1	14	105240312	105240312	Asymptomatic	PCR RFLP GAIIx Sanger NGS gene panel
30674	207	AKT1	14	105242027	105242027	Asymptomatic	PCR RFLP GAIIx Sanger NGS gene panel
30675	207	AKT1	14	105239253	105239254	Asymptomatic	PCR RFLP GAIIx Sanger NGS gene panel
31680	207	AKT1	14	105239264	105239264	Asymptomatic	PCR RFLP GAIIx Sanger NGS gene panel
31681	207	AKT1	14	105237099	105237099	Asymptomatic	PCR RFLP GAIIx Sanger NGS gene panel
33257	207	AKT1	14	105243019	105243019	Asymptomatic	PCR RFLP GAIIx Sanger NGS gene panel
34065	207	AKT1	14	105246482	105246482	Asymptomatic	PCR RFLP GAIIx Sanger NGS gene panel