Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.A331T

SIRT1

528 papers

RefSeq Summary

This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes...

Pfam Domains

SIR2aa 1–152UCSCSir2 family
SIR2aa 7–144UCSCSir2 family

Gene Aliases

HGNC Name

sirtuin 1

HGNC Alias Symbol

SIR2L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_012238.5
p.A331T
c.991G>A
NM_001314049.2
p.A28T
c.82G>A
Surrounding Variants
1 paper
NM_001314049.2
p.I27V
c.79A>G
2 papers
NM_001314049.2
p.S30L
c.89C>T
NM_012238.5
p.S333L
c.998C>T
1 paper
NM_012238.5
p.K328Q
c.982A>C
1 paper
NM_001142498.2
p.K33E
c.97A>G
1 paper
NM_001314049.2
p.K32E
c.94A>G
1 paper
NM_012238.5
p.H327Y
c.979C>T
1 paper
NM_012238.5
p.C326Y
c.977G>A
1 paper
NM_001314049.2
p.C23S
c.68G>C
1 paper
NM_001314049.2
p.C23S
c.67T>A
1 paper
NM_001142498.2
p.E41G
c.122A>G
1 paper
NM_001142498.2
p.E41V
c.122A>T
1 paper
NM_012238.5
p.Q322insFs
c.965_966insC
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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."