Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.E128K

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_012238.5
p.E128K
c.382G>A
Surrounding Variants
1 paper
NM_012238.5
p.E128delFs
c.382_383delGA
1 paper
NM_012238.5
p.G129S
c.385G>A
1 paper
NM_012238.5
p.E130A
c.389A>C
1 paper
NM_012238.5
p.E130G
c.389A>G
1 paper
NM_012238.5
p.E123*
c.367G>T
1 paper
NM_012238.5
p.E134delFs
c.400delG
1 paper
NM_012238.5
p.E134K
c.400G>A
1 paper
NM_012238.5
p.Y121*
c.363C>A
1 paper
NM_012238.5
p.Y121*
c.363C>G
1 paper
NM_012238.5
p.N119K
c.357C>A
1 paper
NM_012238.5
p.N119K
c.357C>G
1 paper
NM_012238.5
p.A136G
c.407C>G
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