Varaico: Literature-Extracted Genetic Variants

Gene:HINT1
Variant:p.I44F

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.I44F
c.130A>T
Surrounding Variants
1 paper
NM_005340.7
p.D43N
c.127G>A
1 paper
NM_005340.7
p.L39_A40insFs
c.117_118insC
1 paper
NM_005340.7
p.L39L
c.117T>C
9 papers
NM_005340.7
p.C38R
c.112T>C
1 paper
NM_005340.7
p.R37_C38Splc
c.112-2A>G
5 papers
NM_005340.7
p.H51fs
c.151_152fs
1 paper
NM_005340.7
p.H51Y
c.151C>T
5 papers
NM_005340.7
p.H51R
c.152A>G
3 papers
NM_005340.7
p.T50delFs
c.148_149delGT
1 paper
NM_005340.7
p.L53L
c.159G>A
1 paper
NM_005340.7
p.V54L
c.160G>T
1 paper
NM_005340.7
p.V54L
c.160G>C
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