Varaico: Literature-Extracted Genetic Variants

Gene:CD38
Variant:p.K234E

CD38

333 papers

RefSeq Summary

The protein encoded by this gene is a non-lineage-restricted, type II transmembrane glycoprotein that synthesizes and hydrolyzes cyclic adenosine 5'-diphosphate-ribose, an intracellular calcium ion mo...

Pfam Domains

Rib_hydrolayseaa 56–296UCSCADP-ribosyl cyclase

Gene Aliases

HGNC Name

CD38 molecule

HGNC Alias Symbol

cADPR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001775.4
p.K234E
c.700A>G
Surrounding Variants
2 papers
NM_001775.4
p.Q236*
c.706C>T
1 paper
NM_001775.4
p.T237I
c.710C>T
2 papers
NM_001775.4
p.E226D
c.678A>C
2 papers
NM_001775.4
p.E226D
c.678A>T
3 papers
NM_001775.4
p.E226G
c.677A>G
5 papers
NM_001775.4
p.E226Q
c.676G>C
1 paper
NM_001775.4
p.G223W
c.667G>T
1 paper
NM_001775.4
p.G245V
c.734G>T
1 paper
NM_001775.4
p.D249H
c.745G>C
1 paper
NM_001775.4
p.D249Y
c.745G>T
1 paper
NM_001775.4
p.D249G
c.746A>G
1 paper
NM_001775.4
p.R251*
c.751A>T
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