Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.G52E

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
2 papers
NM_001314049.2
p.G52E
c.155G>A
NM_012238.5
p.G355E
c.1064G>A
Surrounding Variants
1 paper
NM_001314049.2
p.A51V
c.152C>T
1 paper
NM_001314049.2
p.A51S
c.151G>T
2 papers
NM_001314049.2
p.Q54H
c.162A>C
NM_012238.5
p.Q357H
c.1071A>C
2 papers
NM_001314049.2
p.Q54H
c.162A>T
NM_012238.5
p.Q357H
c.1071A>T
1 paper
NM_001314049.2
p.V50L
c.148G>C
1 paper
NM_001314049.2
p.V50F
c.148G>T
1 paper
NM_001142498.2
p.I65I
c.195T>C
1 paper
NM_012238.5
p.Q361R
c.1082A>G
1 paper
NM_001314049.2
p.T46A
c.136A>G
1 paper
NM_012238.5
p.D348N
c.1042G>A
1 paper
NM_001314049.2
p.C59*
c.177T>A
68 papers
NM_012238.5
p.H363Y
c.1087C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."