Varaico: Literature-Extracted Genetic Variants

Gene:CD38
Variant:p.L153H

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.L153H
c.458T>A
Surrounding Variants
1 paper
NM_001775.4
p.L153F
c.457C>T
1 paper
NM_001775.4
p.D155_L157del3
c.463_470del9
2 papers
NM_001775.4
p.D155N
c.463G>A
1 paper
NM_001775.4
p.D155G
c.464A>G
2 papers
NM_001775.4
p.D155E
c.465T>A
2 papers
NM_001775.4
p.D155E
c.465T>G
1 paper
NM_001775.4
p.T158R
c.473C>G
2 papers
NM_001775.4
p.T148M
c.443C>T
2 papers
NM_001775.4
p.D147V
c.440A>T
4 papers
NM_001775.4
p.E146A
c.437A>C
2 papers
NM_001775.4
p.E146G
c.437A>G
1 paper
NM_001775.4
p.G161D
c.482G>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."