Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.A24delFs

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.A24delFs
c.70delG
Surrounding Variants
1 paper
NM_012238.5
p.A24A
c.72C>G
1 paper
NM_012238.5
p.S26W
c.77C>G
1 paper
NM_012238.5
p.A20T
c.58G>A
2 papers
NM_012238.5
p.S27P
c.79T>C
3 papers
NM_012238.5
p.S27A
c.79T>G
1 paper
NM_012238.5
p.A18G
c.53C>G
1 paper
NM_012238.5
p.S16S
c.48G>A
1 paper
NM_012238.5
p.E31G
c.92A>G
2 papers
NM_012238.5
p.E31E
c.93G>A
1 paper
NM_012238.5
p.S14P
c.40T>C
1 paper
NM_012238.5
p.G13D
c.38G>A
1 paper
NM_012238.5
p.L33R
c.98T>G
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