Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.L253V

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.L253V
c.757T>G
Surrounding Variants
1 paper
NM_012238.5
p.L556L
c.1666T>C
1 paper
NM_001142498.2
p.D262G
c.785A>G
1 paper
NM_001314049.2
p.V250F
c.748G>T
1 paper
NM_001142498.2
p.I257V
c.769A>G
1 paper
NM_001314049.2
p.A257G
c.770C>G
1 paper
NM_001314049.2
p.V248M
c.742G>A
1 paper
NM_001314049.2
p.S246C
c.737C>G
1 paper
NM_001314049.2
p.D245E
c.735T>A
1 paper
NM_001314049.2
p.D245E
c.735T>G
1 paper
NM_001314049.2
p.D245H
c.733G>C
1 paper
NM_001314049.2
p.D261G
c.782A>G
1 paper
NM_001314049.2
p.P244S
c.730C>T
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