Varaico: Literature-Extracted Genetic Variants

Gene:CD38
Variant:p.L33Fs

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.L33Fs
c.97_98delinsCFs
Surrounding Variants
1 paper
NM_001775.4
p.L33P
c.98T>C
2 papers
NM_001775.4
p.L33R
c.98T>G
1 paper
NM_001775.4
p.L35L
c.105C>T
1 paper
NM_001775.4
p.V36G
c.107T>G
1 paper
NM_001775.4
p.S29I
c.86G>T
1 paper
NM_001775.4
p.V37A
c.110T>C
1 paper
NM_001775.4
p.V38L
c.112G>C
1 paper
NM_001775.4
p.Q23*
c.67C>T
1 paper
NM_001775.4
p.A22P
c.64G>C
1 paper
NM_001775.4
p.P44R
c.131C>G
1 paper
NM_001775.4
p.R45W
c.133A>T
1 paper
NM_001775.4
p.S19S
c.57T>G
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