Varaico: Literature-Extracted Genetic Variants

Gene:HINT1
Variant:p.G89V

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
8 papers
NM_005340.7
p.G89V
c.266G>T
Surrounding Variants
1 paper
NM_005340.7
p.D87V
c.260A>T
1 paper
NM_005340.7
p.K92_G93ins1
c.276_277insCGC
1 paper
NM_005340.7
p.N91_K92del1
c.273_275delTTA
1 paper
NM_005340.7
p.N91_K92del2
c.271_275del6
1 paper
NM_005340.7
p.G93V
c.278G>T
1 paper
NM_005340.7
p.G93A
c.278G>C
10 papers
NM_005340.7
p.G93D
c.278G>A
1 paper
NM_005340.7
p.C84S
c.251G>C
4 papers
NM_005340.7
p.Y94C
c.281A>G
17 papers
NM_005340.7
p.C84R
c.250T>C
1 paper
NM_005340.7
p.C84S
c.250T>A
1 paper
NM_005340.7
p.R95*
c.283C>T
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