Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD5
Variant:p.Q212*

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.Q212*
c.634C>T
Surrounding Variants
2 papers
NM_001249.5
p.T216I
c.647C>T
1 paper
NM_001249.5
p.H240R
c.719A>G
1 paper
NM_001249.5
p.I174T
c.521T>C
1 paper
NM_001249.5
p.E172A
c.515A>C
1 paper
NM_001249.5
p.D171N
c.511G>A
1 paper
NM_001249.5
p.S170S
c.510C>T
1 paper
NM_001249.5
p.L158Q
c.473T>A
1 paper
NM_001249.5
p.E150Q
c.448G>C
1 paper
NM_001249.5
p.L243L
c.727C>T
1 paper
NM_001249.5
p.L243P
c.728T>C
1 paper
NM_001249.5
p.L247W
c.740T>G
1 paper
NM_001249.5
p.G262Splc
c.784+6T>C
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