Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD6
Variant:p.K199_V200Splc

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.K199_V200Splc
c.597+1G>A
Surrounding Variants
2 papers
NM_001247.5
p.G190*
c.568G>T
1 paper
NM_001247.5
p.R157Q
c.470G>A
1 paper
NM_001247.5
p.Q154E
c.460C>G
1 paper
NM_001247.5
p.K201E
c.601A>G
4 papers
NM_001247.5
p.K202E
c.604A>G
1 paper
NM_001247.5
p.M249V
c.745A>G
1 paper
NM_001247.5
p.K151E
c.451A>G
1 paper
NM_001247.5
p.L138V
c.412C>G
1 paper
NM_001247.5
p.K136E
c.406A>G
1 paper
NM_001247.5
p.F135L
c.405C>A
1 paper
NM_001247.5
p.F135L
c.405C>G
1 paper
NM_001247.5
p.F135L
c.403T>C
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