Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.P212L

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.P212L
c.635C>T
Surrounding Variants
2 papers
NM_012238.5
p.P212A
c.634C>G
1 paper
NM_012238.5
p.P211L
c.632C>T
1 paper
NM_012238.5
p.P211T
c.631C>A
1 paper
NM_012238.5
p.I210M
c.630A>G
1 paper
NM_012238.5
p.E214A
c.641A>C
1 paper
NM_012238.5
p.I210V
c.628A>G
1 paper
NM_012238.5
p.T209R
c.626C>G
1 paper
NM_012238.5
p.D216A
c.647A>C
1 paper
NM_012238.5
p.D217A
c.650A>C
1 paper
NM_012238.5
p.P207L
c.620C>T
1 paper
NM_012238.5
p.M218V
c.652A>G
1 paper
NM_012238.5
p.M218T
c.653T>C
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