Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.N39T

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.N39T
c.116A>C
Surrounding Variants
2 papers
NM_001314049.2
p.R38H
c.113G>A
NM_012238.5
p.R341H
c.1022G>A
1 paper
NM_012238.5
p.R341fs
c.1021_1022fs
1 paper
NM_012238.5
p.Y343*
c.1029T>A
1 paper
NM_012238.5
p.Y343*
c.1029T>G
2 papers
NM_012238.5
p.T344A
c.1030A>G
1 paper
NM_012238.5
p.L340V
c.1018C>G
1 paper
NM_012238.5
p.D348N
c.1042G>A
1 paper
NM_001142498.2
p.E41G
c.122A>G
1 paper
NM_001142498.2
p.E41V
c.122A>T
1 paper
NM_001314049.2
p.T46A
c.136A>G
1 paper
NM_001314049.2
p.K32E
c.94A>G
2 papers
NM_001314049.2
p.S30L
c.89C>T
NM_012238.5
p.S333L
c.998C>T
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