Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD5
Variant:p.I77V

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.I77V
c.229A>G
Surrounding Variants
1 paper
NM_001249.5
p.G73R
c.217G>C
1 paper
NM_001249.5
p.G73R
c.217G>A
1 paper
NM_001249.5
p.G73Splc
c.217+9A>T
1 paper
NM_001249.5
p.T66A
c.196A>G
1 paper
NM_001249.5
p.D54V
c.161A>T
1 paper
NM_001249.5
p.A45T
c.133G>A
1 paper
NM_001249.5
p.S36_S37ins6
c.106_110ins18
1 paper
NM_001249.5
p.M1K
c.2T>A
1 paper
NM_001249.5
p.R117*
c.349C>T
1 paper
NM_001249.5
p.R117Q
c.350G>A
1 paper
NM_001249.5
p.T123I
c.368C>T
1 paper
NM_001249.5
p.V125V
c.375G>C
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