Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD2
Variant:p.H232fs

ENTPD2

61 papers

RefSeq Summary

The protein encoded by this gene is the type 2 enzyme of the ecto-nucleoside triphosphate diphosphohydrolase family (E-NTPDase). E-NTPDases are a family of ecto-nucleosidases that hydrolyze 5'-triphos...

Pfam Domains

GDA1_CD39aa 32–458UCSCGDA1/CD39 (nucleoside phosphatase) family

Gene Aliases

HGNC Name

ectonucleoside triphosphate diphosphohydrolase 2

HGNC Previous Symbol

CD39L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_203468.3
p.H232fs
c.694_695fs
Surrounding Variants
1 paper
NM_203468.3
p.Y233H
c.697T>C
1 paper
NM_203468.3
p.Q231fs
c.691_692fs
1 paper
NM_203468.3
p.V235fs
c.703_704fs
1 paper
NM_203468.3
p.L228fs
c.682_683fs
1 paper
NM_203468.3
p.H227fs
c.679_680fs
1 paper
NM_203468.3
p.D219H
c.655G>C
1 paper
NM_203468.3
p.Q208K
c.622C>A
1 paper
NM_203468.3
p.Q258*
c.772C>T
1 paper
NM_203468.3
p.G204fs
c.610_611fs
1 paper
NM_203468.3
p.M200L
c.598A>T
1 paper
NM_203468.3
p.M200L
c.598A>C
1 paper
NM_203468.3
p.A199G
c.596C>G
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