Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD4
Variant:p.P130S

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.P130S
c.388C>T
Surrounding Variants
1 paper
NM_004901.5
p.R128Q
c.383G>A
1 paper
NM_004901.5
p.R128*
c.382C>T
1 paper
NM_004901.5
p.G90R
c.268G>C
2 papers
NM_004901.5
p.N88K
c.264C>G
2 papers
NM_004901.5
p.N88K
c.264C>A
1 paper
NM_004901.5
p.E78G
c.233A>G
1 paper
NM_004901.5
p.L71R
c.212T>G
1 paper
NM_004901.5
p.K66delFs
c.197_198delTT
1 paper
NM_004901.5
p.V51L
c.151G>C
1 paper
NM_004901.5
p.G22E
c.65G>A
1 paper
NM_004901.5
p.R3R
c.9G>A
1 paper
NM_004901.5
p.L197V
c.589C>G
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