Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD5
Variant:p.G262Splc

ENTPD5

51 papers

RefSeq Summary

The protein encoded by this gene is similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 apyrase-co...

Pfam Domains

GDA1_CD39aa 41–427UCSCGDA1/CD39 (nucleoside phosphatase) family

Gene Aliases

HGNC Name

ectonucleoside triphosphate diphosphohydrolase 5 (inactive)

HGNC Previous Symbols

CD39L4; PCPH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001249.5
p.G262Splc
c.784+6T>C
Surrounding Variants
1 paper
NM_001249.5
p.L247W
c.740T>G
1 paper
NM_001249.5
p.L243P
c.728T>C
1 paper
NM_001249.5
p.L243L
c.727C>T
1 paper
NM_001249.5
p.I282T
c.845T>C
1 paper
NM_001249.5
p.H240R
c.719A>G
2 papers
NM_001249.5
p.T216I
c.647C>T
1 paper
NM_001249.5
p.Q212*
c.634C>T
2 papers
NM_001249.5
p.A305V
c.914C>T
1 paper
NM_001249.5
p.E306K
c.916G>A
1 paper
NM_001249.5
p.K314R
c.941A>G
1 paper
NM_001249.5
p.M341I
c.1023G>T
1 paper
NM_001249.5
p.M341I
c.1023G>C
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