Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.E596K

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.E596K
c.1786G>A
Surrounding Variants
2 papers
NM_012238.5
p.M595T
c.1784T>C
NM_001314049.2
p.M292T
c.875T>C
1 paper
NM_001314049.2
p.N294D
c.880A>G
1 paper
NM_001314049.2
p.Q291H
c.873G>C
1 paper
NM_001314049.2
p.Q291H
c.873G>T
1 paper
NM_012238.5
p.K601Q
c.1801A>C
1 paper
NM_001314049.2
p.I288V
c.862A>G
2 papers
NM_012238.5
p.K601R
c.1802A>G
NM_001314049.2
p.K298R
c.893A>G
1 paper
NM_001314049.2
p.V300L
c.898G>C
1 paper
NM_012238.5
p.E589*
c.1765G>T
1 paper
NM_001314049.2
p.G301S
c.901G>A
1 paper
NM_001314049.2
p.G301D
c.902G>A
1 paper
NM_001314049.2
p.G301V
c.902G>T
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