Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.A74insFs

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.A74insFs
c.221dupC
Surrounding Variants
1 paper
NM_012238.5
p.A73G
c.218C>G
2 papers
NM_012238.5
p.A72V
c.215C>T
1 paper
NM_012238.5
p.W76L
c.227G>T
1 paper
NM_012238.5
p.W76*
c.228G>A
1 paper
NM_012238.5
p.A70V
c.209C>T
2 papers
NM_012238.5
p.A72del1
c.214_215delGCG
1 paper
NM_012238.5
p.P68L
c.203C>T
1 paper
NM_012238.5
p.P68T
c.202C>A
2 papers
NM_012238.5
p.E80K
c.238G>A
1 paper
NM_012238.5
p.E80D
c.240G>T
1 paper
NM_012238.5
p.E82K
c.244G>A
1 paper
NM_012238.5
p.G66R
c.196G>C
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