Varaico: Literature-Extracted Genetic Variants

Gene:SIRT5
Variant:p.R147H

SIRT5

77 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 58–256UCSCSir2 family

Gene Aliases

HGNC Name

sirtuin 5

HGNC Previous Names

sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5; sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012241.5
p.R147H
c.440G>A
Surrounding Variants
1 paper
NM_012241.5
p.R147C
c.439C>T
1 paper
NM_012241.5
p.D143N
c.427G>A
1 paper
NM_012241.5
p.Q140L
c.419A>T
15 papers
NM_012241.5
p.H158Y
c.472C>T
3 papers
NM_012241.5
p.L128V
c.382C>G
1 paper
NM_012241.5
p.G117W
c.349G>T
2 papers
NM_012241.5
p.P114T
c.340C>A
1 paper
NM_012241.5
p.M109I
c.327G>A
2 papers
NM_012241.5
p.F101L
c.303C>A
2 papers
NM_012241.5
p.F101L
c.303C>G
2 papers
NM_012241.5
p.F101L
c.301T>C
1 paper
NM_012241.5
p.E100fs
c.298_299fs
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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."