Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD4
Variant:p.R586R

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.R586R
c.1756C>A
Surrounding Variants
1 paper
NM_004901.5
p.R587C
c.1759C>T
1 paper
NM_004901.5
p.L583M
c.1747C>A
1 paper
NM_004901.5
p.R591H
c.1772G>A
1 paper
NM_004901.5
p.L579L
c.1735C>T
1 paper
NM_004901.5
p.R591_P593del3
c.1771_1778del9
3 papers
NM_004901.5
p.S597L
c.1790C>T
1 paper
NM_004901.5
p.Q610*
c.1828C>T
1 paper
NM_004901.5
p.V524I
c.1570G>A
1 paper
NM_004901.5
p.D521N
c.1561G>A
1 paper
NM_004901.5
p.S493T
c.1477T>A
1 paper
NM_004901.5
p.R469Q
c.1406G>A
1 paper
NM_004901.5
p.R469W
c.1405C>T
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