Varaico: Literature-Extracted Genetic Variants

Gene:ITPA
Variant:p.L42Splc

ITPA

387 papers

RefSeq Summary

This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This ...

Pfam Domains

Ham1p_likeaa 10–188UCSCHam1 family

Gene Aliases

HGNC Name

inosine triphosphatase

HGNC Previous Symbol

C20orf37

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
81 papers
NM_033453.4
p.L42Splc
c.124+21A>C
Surrounding Variants
4 papers
NM_033453.4
p.L42Splc
c.124+1G>A
2 papers
NM_033453.4
p.L42Splc
c.124+1G>C
1 paper
NM_033453.4
p.L42V
c.124C>G
1 paper
NM_033453.4
p.D41G
c.122A>G
1 paper
NM_033453.4
p.D41N
c.121G>A
1 paper
NM_033453.4
p.L42Splc
c.124+53C>T
1 paper
NM_033453.4
p.V36L
c.106G>C
1 paper
NM_033453.4
p.V36_A37ins6
c.106_110ins18
1 paper
NM_033453.4
p.V36L
c.106G>T
1 paper
NM_033453.4
p.T34I
c.101C>T
6 papers
NM_033453.4
p.L42Splc
c.124+68T>C
6 papers
NM_033453.4
p.L42Splc
c.124+68T>G
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