Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.G192D

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.G192D
c.575G>A
Surrounding Variants
1 paper
NM_001314049.2
p.K196T
c.587A>C
2 papers
NM_001314049.2
p.K196R
c.587A>G
NM_012238.5
p.K499R
c.1496A>G
1 paper
NM_012238.5
p.L489_C490delins
c.1467_1468delinsAT
1 paper
NM_001314049.2
p.C198R
c.592T>C
1 paper
NM_001314049.2
p.C199R
c.595T>C
1 paper
NM_001314049.2
p.C199Y
c.596G>A
1 paper
NM_001314049.2
p.E185Q
c.553G>C
1 paper
NM_001314049.2
p.N200D
c.598A>G
1 paper
NM_001314049.2
p.P201T
c.601C>A
1 paper
NM_001314049.2
p.I182T
c.545T>C
1 paper
NM_001314049.2
p.I182R
c.545T>G
2 papers
NM_012238.5
p.K506R
c.1517A>G
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