Varaico: Literature-Extracted Genetic Variants

Gene:CD38
Variant:p.C4S

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
3 papers
NM_001775.4
p.C4S
c.10T>A
Surrounding Variants
1 paper
NM_001775.4
p.A2T
c.4G>A
1 paper
NM_001775.4
p.A2P
c.4G>C
1 paper
NM_001775.4
p.M1I
c.3G>A
1 paper
NM_001775.4
p.M1I
c.3G>C
1 paper
NM_001775.4
p.M1_A2insFs
c.3_4insA
1 paper
NM_001775.4
p.M1I
c.3G>T
2 papers
NM_001775.4
p.M1T
c.2T>C
1 paper
NM_001775.4
p.M1R
c.2T>G
1 paper
NM_001775.4
p.L18fs
c.52_53fs
1 paper
NM_001775.4
p.S19delFs
c.55delT
1 paper
NM_001775.4
p.S19S
c.57T>G
1 paper
NM_001775.4
p.A22P
c.64G>C
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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."