Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.E113D

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.E113D
c.339G>T
Surrounding Variants
1 paper
NM_012238.5
p.E113D
c.339G>C
4 papers
NM_012238.5
p.P114Q
c.341C>A
1 paper
NM_012238.5
p.A117T
c.349G>A
1 paper
NM_012238.5
p.P110S
c.328C>T
1 paper
NM_012238.5
p.Q108*
c.322C>T
1 paper
NM_012238.5
p.N119K
c.357C>A
1 paper
NM_012238.5
p.N119K
c.357C>G
7 papers
NM_012238.5
p.L107P
c.320T>C
1 paper
NM_012238.5
p.Y121*
c.363C>A
1 paper
NM_012238.5
p.Y121*
c.363C>G
1 paper
NM_012238.5
p.P105_G106insFs
c.315_316insC
1 paper
NM_012238.5
p.E123*
c.367G>T
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