Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.E230K

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
3 papers
NM_012238.5
p.E230K
c.688G>A
Surrounding Variants
1 paper
NM_012238.5
p.E230Q
c.688G>C
2 papers
NM_012238.5
p.E230A
c.689A>C
1 paper
NM_012238.5
p.P231S
c.691C>T
1 paper
NM_012238.5
p.P232T
c.694C>A
1 paper
NM_012238.5
p.L228F
c.682C>T
2 papers
NM_012238.5
p.R237delFs
c.709delA
1 paper
NM_012238.5
p.I225V
c.673A>G
1 paper
NM_012238.5
p.I225F
c.673A>T
1 paper
NM_012238.5
p.K235R
c.704A>G
2 papers
NM_012238.5
p.V224A
c.671T>C
1 paper
NM_012238.5
p.I223S
c.668T>G
1 paper
NM_012238.5
p.R237fs
c.709_710fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."