Varaico: Literature-Extracted Genetic Variants

Gene:AKT1
Variant:p.G130V

AKT1

3,188 papers

RefSeq Summary

This gene encodes one of the three members of the human AKT serine-threonine protein kinase family which are often referred to as protein kinase B alpha, beta, and gamma. These highly similar AKT prot...

Pfam Domains

PHaa 6–108UCSCPH domain
Pkinaseaa 150–408UCSCProtein kinase domain
Pkinase_Caa 429–474UCSCProtein kinase C terminal domain

Gene Aliases

HGNC Name

AKT serine/threonine kinase 1

HGNC Alias Symbols

PKB; PRKBA; RAC-alpha

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001382430.1
p.G130V
c.389G>T
Surrounding Variants
3 papers
NM_001382430.1
p.G130A
c.389G>C
3 papers
NM_001382430.1
p.G130E
c.389G>A
1 paper
NM_001382430.1
p.S129_G130delFs
c.387_388delCT
1 paper
NM_001382430.1
p.G130W
c.388G>T
1 paper
NM_001382430.1
p.G130R
c.388G>A
1 paper
NM_001382430.1
p.A131S
c.391G>T
1 paper
NM_001382430.1
p.A131P
c.391G>C
4 papers
NM_001382430.1
p.A131T
c.391G>A
1 paper
NM_001382430.1
p.S129L
c.386C>T
1 paper
NM_001382430.1
p.A131D
c.392C>A
1 paper
NM_001382430.1
p.G130delFs
c.389delC
1 paper
NM_001382430.1
p.S129_A131delFs
c.385_391del7
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."