Varaico: Literature-Extracted Genetic Variants

Gene:HINT2
Variant:p.Y131F

HINT2

20 papers

RefSeq Summary

Histidine triad proteins, such as HINT2, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008].

Pfam Domains

HITaa 61–158UCSCHIT domain

Gene Aliases

HGNC Name

histidine triad nucleotide binding protein 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032593.3
p.Y131F
c.392A>T
Surrounding Variants
1 paper
NM_032593.3
p.L116F
c.346C>T
1 paper
NM_032593.3
p.Q109_L110Splc
c.327+44A>T
1 paper
NM_032593.3
p.K139*
c.415A>T
1 paper
NM_032593.3
p.Q109*
c.325C>T
1 paper
NM_032593.3
p.I150V
c.448A>G
1 paper
NM_032593.3
p.V152E
c.455T>A
2 papers
NM_032593.3
p.R99W
c.295C>T
1 paper
NM_032593.3
p.F78F
c.234C>T
1 paper
NM_032593.3
p.C75*
c.225T>A
1 paper
NM_032593.3
p.A31V
c.92C>T
1 paper
NM_032593.3
p.R16K
c.47G>A
1 paper
NM_032593.3
p.A9V
c.26C>T
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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."