Varaico: Literature-Extracted Genetic Variants

Gene:HINT1
Variant:p.S107A

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.S107A
c.319T>G
Surrounding Variants
3 papers
NM_005340.7
p.Q106*
c.316C>T
1 paper
NM_005340.7
p.Y109D
c.325T>G
1 paper
NM_005340.7
p.Y109C
c.326A>G
1 paper
NM_005340.7
p.G104R
c.310G>C
1 paper
NM_005340.7
p.V111fs
c.331_332fs
1 paper
NM_005340.7
p.H110insFs
c.329_330dupAC
1 paper
NM_005340.7
p.V111I
c.331G>A
23 papers
NM_005340.7
p.H112N
c.334C>A
1 paper
NM_005340.7
p.E100G
c.299A>G
5 papers
NM_005340.7
p.H114R
c.341A>G
1 paper
NM_005340.7
p.N99_E100insT
c.295_299ins3
1 paper
NM_005340.7
p.V115A
c.344T>C
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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."