Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD4
Variant:p.M444V

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.M444V
c.1330A>G
Surrounding Variants
2 papers
NM_004901.5
p.L442insFs
c.1326dupA
1 paper
NM_004901.5
p.L442fs
c.1324_1325fs
1 paper
NM_004901.5
p.Q424R
c.1271A>G
1 paper
NM_004901.5
p.T406R
c.1217C>G
1 paper
NM_004901.5
p.R396G
c.1186C>G
1 paper
NM_004901.5
p.F392L
c.1176T>G
1 paper
NM_004901.5
p.F392L
c.1176T>A
1 paper
NM_004901.5
p.F392L
c.1174T>C
1 paper
NM_004901.5
p.R387Q
c.1160G>A
1 paper
NM_004901.5
p.P363L
c.1088C>T
1 paper
NM_004901.5
p.P360L
c.1079C>T
2 papers
NM_004901.5
p.K354E
c.1060A>G
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