Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD6
Variant:p.A349Splc

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.A349Splc
c.1045+6G>C
Surrounding Variants
1 paper
NM_001247.5
p.H336N
c.1006C>A
2 papers
NM_001247.5
p.S323N
c.968G>A
1 paper
NM_001247.5
p.E320G
c.959A>G
1 paper
NM_001247.5
p.A358T
c.1072G>A
1 paper
NM_001247.5
p.V374V
c.1122G>A
1 paper
NM_001247.5
p.I395T
c.1184T>C
1 paper
NM_001247.5
p.D396Splc
c.1187-1G>C
1 paper
NM_001247.5
p.D458H
c.1372G>C
1 paper
NM_001247.5
p.M249V
c.745A>G
4 papers
NM_001247.5
p.K202E
c.604A>G
1 paper
NM_001247.5
p.K201E
c.601A>G
1 paper
NM_001247.5
p.K199_V200Splc
c.597+1G>A
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