Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD4
Variant:p.R340fs

ENTPD4

42 papers

RefSeq Summary

This gene encodes a member of the apyrase protein family. Apyrases are enzymes that catalyze the hydrolysis of nucleotide diphosphates and triphosphates in a calcium or magnesium-dependent manner. The...

Pfam Domains

GDA1_CD39aa 80–548UCSCGDA1/CD39 (nucleoside phosphatase) family

Gene Aliases

HGNC Name

ectonucleoside triphosphate diphosphohydrolase 4

HGNC Previous Symbol

LYSAL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004901.5
p.R340fs
c.1018_1019fs
Surrounding Variants
2 papers
NM_004901.5
p.I346V
c.1036A>G
1 paper
NM_004901.5
p.T324M
c.971C>T
1 paper
NM_004901.5
p.Q313L
c.938A>T
1 paper
NM_004901.5
p.N306H
c.916A>C
1 paper
NM_004901.5
p.A303T
c.907G>A
1 paper
NM_004901.5
p.G268C
c.802G>T
1 paper
NM_004901.5
p.R263H
c.788G>A
2 papers
NM_004901.5
p.A246A
c.738C>T
1 paper
NM_004901.5
p.G229D
c.686G>A
1 paper
NM_004901.5
p.A226T
c.676G>A
2 papers
NM_004901.5
p.K354E
c.1060A>G
1 paper
NM_004901.5
p.P360L
c.1079C>T
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