Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.P225L

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.P225L
c.674C>T
Surrounding Variants
1 paper
NM_001314049.2
p.P225Q
c.674C>A
1 paper
NM_001314049.2
p.L224W
c.671T>G
1 paper
NM_012238.5
p.T530P
c.1588A>C
5 papers
NM_012238.5
p.T530A
c.1588A>G
1 paper
NM_001314049.2
p.S222L
c.665C>T
1 paper
NM_001314049.2
p.A219V
c.656C>T
2 papers
NM_012238.5
p.E536K
c.1606G>A
NM_001314049.2
p.E233K
c.697G>A
1 paper
NM_012238.5
p.E520*
c.1558G>T
1 paper
NM_001314049.2
p.K216N
c.648A>C
1 paper
NM_001314049.2
p.K216N
c.648A>T
1 paper
NM_012238.5
p.K519R
c.1556A>G
1 paper
NM_012238.5
p.K519E
c.1555A>G
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