Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.I288V

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.I288V
c.862A>G
Surrounding Variants
1 paper
NM_012238.5
p.E589*
c.1765G>T
1 paper
NM_001314049.2
p.Q291H
c.873G>C
1 paper
NM_001314049.2
p.Q291H
c.873G>T
1 paper
NM_001314049.2
p.N284D
c.850A>G
2 papers
NM_012238.5
p.M595T
c.1784T>C
NM_001314049.2
p.M292T
c.875T>C
1 paper
NM_001314049.2
p.R283T
c.848G>C
1 paper
NM_001314049.2
p.R283G
c.847A>G
1 paper
NM_012238.5
p.E596K
c.1786G>A
1 paper
NM_001314049.2
p.S282C
c.845C>G
1 paper
NM_001314049.2
p.N294D
c.880A>G
1 paper
NM_012238.5
p.S585A
c.1753T>G
1 paper
NM_001314049.2
p.Q280H
c.840A>C
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