Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.I257V

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_012238.5
p.I257V
c.769A>G
Surrounding Variants
1 paper
NM_012238.5
p.V258F
c.772G>T
1 paper
NM_012238.5
p.L259V
c.775C>G
1 paper
NM_012238.5
p.G261A
c.782G>C
1 paper
NM_012238.5
p.Q251P
c.752A>C
1 paper
NM_012238.5
p.D245E
c.735T>A
1 paper
NM_012238.5
p.D245E
c.735T>G
1 paper
NM_012238.5
p.D245H
c.733G>C
1 paper
NM_012238.5
p.D245_A246insGGC
c.733_737ins9
1 paper
NM_012238.5
p.I243T
c.728T>C
1 paper
NM_012238.5
p.I243V
c.727A>G
1 paper
NM_012238.5
p.I240N
c.719T>A
1 paper
NM_012238.5
p.I240T
c.719T>C
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