Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD4
Variant:p.C461F

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.C461F
c.1382G>T
Surrounding Variants
1 paper
NM_004901.5
p.K464N
c.1392G>T
1 paper
NM_004901.5
p.K464N
c.1392G>C
1 paper
NM_004901.5
p.R469W
c.1405C>T
1 paper
NM_004901.5
p.R469Q
c.1406G>A
1 paper
NM_004901.5
p.S493T
c.1477T>A
1 paper
NM_004901.5
p.D521N
c.1561G>A
1 paper
NM_004901.5
p.V524I
c.1570G>A
1 paper
NM_004901.5
p.M444V
c.1330A>G
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
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