Varaico: Literature-Extracted Genetic Variants

Gene:HINT1
Variant:p.R37_C38Splc

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.R37_C38Splc
c.111+37T>G
Surrounding Variants
33 papers
NM_005340.7
p.R37P
c.110G>C
1 paper
NM_005340.7
p.F33_E34insFs
c.99_100insT
1 paper
NM_005340.7
p.E34Q
c.100G>C
3 papers
NM_005340.7
p.E34K
c.100G>A
2 papers
NM_005340.7
p.F33delFs
c.99delA
1 paper
NM_005340.7
p.F33C
c.98T>G
3 papers
NM_005340.7
p.F33S
c.98T>C
2 papers
NM_005340.7
p.F33fs
c.97_98fs
1 paper
NM_005340.7
p.I32N
c.95T>A
1 paper
NM_005340.7
p.I31delFs
c.91_92delAT
1 paper
NM_005340.7
p.A29G
c.86C>G
1 paper
NM_005340.7
p.R24C
c.70C>T
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