Varaico: Literature-Extracted Genetic Variants

Gene:SIRT1
Variant:p.K216N

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.K216N
c.648A>C
Surrounding Variants
1 paper
NM_001314049.2
p.K216N
c.648A>T
1 paper
NM_012238.5
p.K519R
c.1556A>G
1 paper
NM_012238.5
p.E520*
c.1558G>T
1 paper
NM_012238.5
p.K519E
c.1555A>G
1 paper
NM_012238.5
p.Q518insFs
c.1553_1554insCG
1 paper
NM_001314049.2
p.Q215R
c.644A>G
1 paper
NM_001314049.2
p.A219V
c.656C>T
1 paper
NM_001314049.2
p.P212L
c.635C>T
1 paper
NM_001314049.2
p.P211L
c.632C>T
1 paper
NM_001314049.2
p.P211T
c.631C>A
1 paper
NM_001314049.2
p.S222L
c.665C>T
1 paper
NM_012238.5
p.K513R
c.1538A>G
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