Varaico: Literature-Extracted Genetic Variants

Gene:HINT1
Variant:p.R119L

HINT1

85 papers

RefSeq Summary

This gene encodes a protein that hydrolyzes purine nucleotide phosphoramidates substrates, including AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. Th...

Pfam Domains

HITaa 24–121UCSCHIT domain

Gene Aliases

HGNC Name

histidine triad nucleotide binding protein 1

HGNC Previous Symbol

PRKCNH1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005340.7
p.R119L
c.356G>T
Surrounding Variants
1 paper
NM_005340.7
p.R119Q
c.356G>A
3 papers
NM_005340.7
p.R119W
c.355C>T
1 paper
NM_005340.7
p.R119G
c.355C>G
1 paper
NM_005340.7
p.G117_G118insC
c.349_353ins3
1 paper
NM_005340.7
p.H122N
c.364C>A
1 paper
NM_005340.7
p.H122L
c.365A>T
1 paper
NM_005340.7
p.V115A
c.344T>C
1 paper
NM_005340.7
p.V115D
c.344T>A
8 papers
NM_005340.7
p.W123*
c.368G>A
8 papers
NM_005340.7
p.W123*
c.369G>A
5 papers
NM_005340.7
p.H114R
c.341A>G
23 papers
NM_005340.7
p.H112N
c.334C>A
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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."