Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD6
Variant:p.F118L

ENTPD6

31 papers

RefSeq Summary

ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which are characteristic of NTP...

Pfam Domains

GDA1_CD39aa 93–483UCSCGDA1/CD39 (nucleoside phosphatase) family

Gene Aliases

HGNC Name

ectonucleoside triphosphate diphosphohydrolase 6

HGNC Previous Symbols

CD39L2; IL6ST2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001247.5
p.F118L
c.354C>G
Surrounding Variants
1 paper
NM_001247.5
p.F118L
c.354C>A
1 paper
NM_001247.5
p.F118L
c.352T>C
1 paper
NM_001247.5
p.R82Q
c.245G>A
1 paper
NM_001247.5
p.T66A
c.196A>G
1 paper
NM_001247.5
p.R64Q
c.191G>A
1 paper
NM_001247.5
p.K42M
c.125A>T
1 paper
NM_001247.5
p.G23S
c.67G>A
4 papers
NM_001247.5
p.S14N
c.41G>A
1 paper
NM_001247.5
p.G4R
c.10G>C
1 paper
NM_001247.5
p.H132R
c.395A>G
1 paper
NM_001247.5
p.F135L
c.403T>C
1 paper
NM_001247.5
p.F135L
c.405C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."