Varaico: Literature-Extracted Genetic Variants

Gene:HINT1
Variant:p.T17A

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.T17A
c.49A>G
Surrounding Variants
1 paper
NM_005340.7
p.F19F
c.57T>C
1 paper
NM_005340.7
p.K21Q
c.61A>C
1 paper
NM_005340.7
p.R24C
c.70C>T
1 paper
NM_005340.7
p.A29G
c.86C>G
4 papers
NM_005340.7
p.D3E
c.9T>G
4 papers
NM_005340.7
p.D3E
c.9T>A
1 paper
NM_005340.7
p.I31delFs
c.91_92delAT
1 paper
NM_005340.7
p.I32N
c.95T>A
1 paper
NM_005340.7
p.M1K
c.2T>A
2 papers
NM_005340.7
p.F33fs
c.97_98fs
1 paper
NM_005340.7
p.F33C
c.98T>G
3 papers
NM_005340.7
p.F33S
c.98T>C
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