Varaico: Literature-Extracted Genetic Variants

Gene:AKT1
Variant:p.L78L

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.L78L
c.232C>T
Surrounding Variants
1 paper
NM_001382430.1
p.L78fs
c.232_233fs
1 paper
NM_001382430.1
p.E66_C77ins4
c.196_231dup36
1 paper
NM_001382430.1
p.L78M
c.232C>A
2 papers
NM_001382430.1
p.E66_L78ins4
c.197_232dup36
2 papers
NM_001382430.1
p.R69_C77ins3
c.207_230dup24
1 paper
NM_001382430.1
p.R67_C77ins3
c.201_230dup30
1 paper
NM_001382430.1
p.K64_C77ins4
c.192_230dup39
9 papers
NM_001382430.1
p.C77F
c.230G>T
1 paper
NM_001382430.1
p.L78L
c.234G>T
2 papers
NM_001382430.1
p.Q61_R76ins5
c.181_228dup48
1 paper
NM_001382430.1
p.Q79*
c.235C>T
2 papers
NM_001382430.1
p.Q79E
c.235C>G
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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."