Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.V484D

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.V484D
c.1451T>A
NM_001314049.2
p.V181D
c.542T>A
Surrounding Variants
1 paper
NM_001314049.2
p.I182T
c.545T>C
1 paper
NM_001314049.2
p.I182R
c.545T>G
1 paper
NM_001314049.2
p.D180N
c.538G>A
1 paper
NM_012238.5
p.C482Y
c.1445G>A
1 paper
NM_012238.5
p.D481A
c.1442A>C
1 paper
NM_012238.5
p.D481N
c.1441G>A
1 paper
NM_001314049.2
p.E185Q
c.553G>C
1 paper
NM_001314049.2
p.L176F
c.526C>T
1 paper
NM_012238.5
p.L489_C490delins
c.1467_1468delinsAT
1 paper
NM_012238.5
p.V476A
c.1427T>C
1 paper
NM_012238.5
p.D475A
c.1424A>C
1 paper
NM_001142498.2
p.D180N
c.538G>A
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