Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.E536K

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.E536K
c.1606G>A
NM_001314049.2
p.E233K
c.697G>A
Surrounding Variants
1 paper
NM_001314049.2
p.S236R
c.706A>C
1 paper
NM_001314049.2
p.S236G
c.706A>G
1 paper
NM_001314049.2
p.S236R
c.708T>A
1 paper
NM_001314049.2
p.S236R
c.708T>G
2 papers
NM_012238.5
p.S540A
c.1618T>G
1 paper
NM_001314049.2
p.P238R
c.713C>G
1 paper
NM_012238.5
p.T530P
c.1588A>C
5 papers
NM_012238.5
p.T530A
c.1588A>G
1 paper
NM_001314049.2
p.P225Q
c.674C>A
1 paper
NM_001314049.2
p.P225L
c.674C>T
1 paper
NM_012238.5
p.T544A
c.1630A>G
1 paper
NM_001314049.2
p.T241S
c.721A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."