Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.E89*

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.E89*
c.265G>T
Surrounding Variants
1 paper
NM_012238.5
p.T95S
c.283A>T
1 paper
NM_012238.5
p.T95S
c.284C>G
1 paper
NM_012238.5
p.E82ins1
c.245_246insGGC
1 paper
NM_012238.5
p.E82G
c.245A>G
1 paper
NM_012238.5
p.E82K
c.244G>A
3 papers
NM_012238.5
p.A97E
c.290C>A
1 paper
NM_012238.5
p.A97G
c.290C>G
1 paper
NM_012238.5
p.A97V
c.290C>T
1 paper
NM_012238.5
p.E80D
c.240G>T
2 papers
NM_012238.5
p.E80K
c.238G>A
1 paper
NM_012238.5
p.E100G
c.299A>G
1 paper
NM_012238.5
p.E100D
c.300A>C
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