Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.P385R

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.P385R
c.1154C>G
Surrounding Variants
1 paper
NM_001314049.2
p.P385H
c.1154C>A
1 paper
NM_001314049.2
p.P385S
c.1153C>T
1 paper
NM_012238.5
p.M689V
c.2065A>G
1 paper
NM_001314049.2
p.M386R
c.1157T>G
1 paper
NM_001314049.2
p.L382S
c.1145T>C
1 paper
NM_001314049.2
p.S381R
c.1143T>A
1 paper
NM_001314049.2
p.S381R
c.1143T>G
1 paper
NM_001314049.2
p.S381R
c.1141A>C
1 paper
NM_001314049.2
p.S381G
c.1141A>G
2 papers
NM_001314049.2
p.I392T
c.1175T>C
NM_012238.5
p.I695T
c.2084T>C
1 paper
NM_001142498.2
p.E402K
c.1204G>A
1 paper
NM_001314049.2
p.N397H
c.1189A>C
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