Varaico: Literature-Extracted Genetic Variants

Gene:AKT1
Variant:p.L280fs

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
1 paper
NM_001382430.1
p.L280fs
c.838_839fs
Surrounding Variants
1 paper
NM_001382430.1
p.L280L
c.840C>A
1 paper
NM_001382430.1
p.L280delFs
c.839_840delGA
1 paper
NM_001382430.1
p.L280F
c.838C>T
4 papers
NM_001382430.1
p.L282L
c.844C>T
1 paper
NM_001382430.1
p.L282V
c.844C>G
1 paper
NM_001382430.1
p.N279S
c.836A>G
1 paper
NM_001382430.1
p.N279D
c.835A>G
2 papers
NM_001382430.1
p.E278A
c.833A>C
2 papers
NM_001382430.1
p.E278Q
c.832G>C
1 paper
NM_001382430.1
p.L282_D283Fs
c.846_848delinsTGFs
1 paper
NM_001382430.1
p.L277delFs
c.830delA
1 paper
NM_001382430.1
p.D283delFs
c.848delT
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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."