Varaico: Literature-Extracted Genetic Variants

Gene:CD38
Variant:p.L64L

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.L64L
c.192G>A
Surrounding Variants
1 paper
NM_001775.4
p.L64insFs
c.190_191ins20
1 paper
NM_001775.4
p.A65V
c.194C>T
1 paper
NM_001775.4
p.R66*
c.196C>T
1 paper
NM_001775.4
p.V63A
c.188T>C
1 paper
NM_001775.4
p.R66Q
c.197G>A
1 paper
NM_001775.4
p.R66P
c.197G>C
1 paper
NM_001775.4
p.V68_K69del2
c.202_206del6
1 paper
NM_001775.4
p.R58H
c.173G>A
1 paper
NM_001775.4
p.R58C
c.172C>T
1 paper
NM_001775.4
p.E72Q
c.214G>C
1 paper
NM_001775.4
p.G52_G54delins
c.155_162delinsGCACA
1 paper
NM_001775.4
p.G52S
c.154G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."