Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD7
Variant:p.L246S

ENTPD7

37 papers

RefSeq Summary

This gene encodes a purine-converting ectoenzyme which belongs to the ecto-nucleoside triphosphate diphosphohydrolase (E-NTPDase) family. The encoded protein hydrolyzes extracellular nucleoside tripho...

Pfam Domains

GDA1_CD39aa 75–536UCSCGDA1/CD39 (nucleoside phosphatase) family

Gene Aliases

HGNC Name

ectonucleoside triphosphate diphosphohydrolase 7

HGNC Alias Symbols

LALP1; FLJ30978

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020354.5
p.L246S
c.737T>C
Surrounding Variants
2 papers
NM_020354.5
p.V276A
c.827T>C
1 paper
NM_020354.5
p.F232L
c.696C>A
1 paper
NM_020354.5
p.F232L
c.696C>G
1 paper
NM_020354.5
p.F232L
c.694T>C
1 paper
NM_020354.5
p.V219I
c.655G>A
1 paper
NM_020354.5
p.H303L
c.908A>T
1 paper
NM_020354.5
p.L333L
c.999T>C
1 paper
NM_020354.5
p.L192I
c.574C>A
1 paper
NM_020354.5
p.D348E
c.1044C>A
1 paper
NM_020354.5
p.D348E
c.1044C>G
1 paper
NM_020354.5
p.P357S
c.1069C>T
1 paper
NM_020354.5
p.V363G
c.1088T>G
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