Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD4
Variant:p.P202S

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
2 papers
NM_004901.5
p.P202S
c.604C>T
Surrounding Variants
1 paper
NM_004901.5
p.L197_L198del2
c.589_593del6
1 paper
NM_004901.5
p.L197_L198del1
c.591_593delAGA
1 paper
NM_004901.5
p.L197V
c.589C>G
1 paper
NM_004901.5
p.A226T
c.676G>A
1 paper
NM_004901.5
p.G229D
c.686G>A
2 papers
NM_004901.5
p.A246A
c.738C>T
1 paper
NM_004901.5
p.R263H
c.788G>A
1 paper
NM_004901.5
p.G268C
c.802G>T
1 paper
NM_004901.5
p.P130S
c.388C>T
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
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