Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.P198A

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.P198A
c.592C>G
Surrounding Variants
1 paper
NM_012238.5
p.P198T
c.592C>A
1 paper
NM_012238.5
p.P198_R199insFs
c.594_595insC
1 paper
NM_012238.5
p.G195G
c.585C>G
1 paper
NM_012238.5
p.M193T
c.578T>C
1 paper
NM_012238.5
p.M193V
c.577A>G
1 paper
NM_012238.5
p.L192V
c.574C>G
1 paper
NM_012238.5
p.D204E
c.612T>G
1 paper
NM_012238.5
p.Q190*
c.568C>T
1 paper
NM_012238.5
p.Q189*
c.565C>T
1 paper
NM_012238.5
p.P207L
c.620C>T
1 paper
NM_012238.5
p.F187F
c.561T>C
1 paper
NM_012238.5
p.F187S
c.560T>C
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