Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.I223S

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.I223S
c.668T>G
Surrounding Variants
1 paper
NM_012238.5
p.Q222R
c.665A>G
2 papers
NM_012238.5
p.V224A
c.671T>C
1 paper
NM_012238.5
p.I225V
c.673A>G
1 paper
NM_012238.5
p.I225F
c.673A>T
1 paper
NM_012238.5
p.W221R
c.661T>C
1 paper
NM_012238.5
p.L220del1
c.658_660delCTG
1 paper
NM_012238.5
p.T219R
c.656C>G
2 papers
NM_012238.5
p.T219A
c.655A>G
1 paper
NM_012238.5
p.L228F
c.682C>T
1 paper
NM_012238.5
p.M218I
c.654G>T
1 paper
NM_012238.5
p.M218T
c.653T>C
1 paper
NM_012238.5
p.M218V
c.652A>G
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