Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.V313A

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
1 paper
NM_001314049.2
p.V313A
c.938T>C
Surrounding Variants
1 paper
NM_001142498.2
p.V325M
c.973G>A
1 paper
NM_001142498.2
p.V325L
c.973G>C
1 paper
NM_001142498.2
p.V325L
c.973G>T
1 paper
NM_012238.5
p.V620insFs
c.1859_1860insC
1 paper
NM_001142498.2
p.K327E
c.979A>G
1 paper
NM_001314049.2
p.T304A
c.910A>G
1 paper
NM_001314049.2
p.V325M
c.973G>A
1 paper
NM_001314049.2
p.V325L
c.973G>C
1 paper
NM_001314049.2
p.V325L
c.973G>T
1 paper
NM_001314049.2
p.G301D
c.902G>A
1 paper
NM_001314049.2
p.G301V
c.902G>T
1 paper
NM_001314049.2
p.G301S
c.901G>A
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