Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.D420E

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.D420E
c.1260T>G
Surrounding Variants
1 paper
NM_001314049.2
p.D420E
c.1260T>A
1 paper
NM_001314049.2
p.Q421E
c.1261C>G
1 paper
NM_001314049.2
p.E422K
c.1264G>A
1 paper
NM_001314049.2
p.A423S
c.1267G>T
1 paper
NM_001314049.2
p.I424T
c.1271T>C
1 paper
NM_001314049.2
p.N425T
c.1274A>C
1 paper
NM_012238.5
p.T719A
c.2155A>G
1 paper
NM_001314049.2
p.N425S
c.1274A>G
1 paper
NM_001314049.2
p.I428L
c.1282A>C
4 papers
NM_012238.5
p.I731V
c.2191A>G
NM_001314049.2
p.I428V
c.1282A>G
1 paper
NM_001314049.2
p.I428L
c.1282A>T
1 paper
NM_012238.5
p.G716R
c.2146G>A
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