Varaico: Literature-Extracted Genetic Variants

Gene:CD38
Variant:p.T116P

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.T116P
c.346A>C
Surrounding Variants
1 paper
NM_001775.4
p.T116S
c.346A>T
1 paper
NM_001775.4
p.V117L
c.349G>C
1 paper
NM_001775.4
p.T114I
c.341C>T
1 paper
NM_001775.4
p.P118H
c.353C>A
1 paper
NM_001775.4
p.C119Y
c.356G>A
1 paper
NM_001775.4
p.K121Q
c.361A>C
1 paper
NM_001775.4
p.M110I
c.330G>T
1 paper
NM_001775.4
p.I101F
c.301A>T
1 paper
NM_001775.4
p.N100I
c.299A>T
1 paper
NM_001775.4
p.P98fs
c.292_293fs
1 paper
NM_001775.4
p.P98S
c.292C>T
1 paper
NM_001775.4
p.P98fs
c.292_293fs
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