Varaico: Literature-Extracted Genetic Variants

Gene:CD47
Variant:p.E323D

CD47

328 papers

RefSeq Summary

This gene encodes a membrane protein, which is involved in the increase in intracellular calcium concentration that occurs upon cell adhesion to extracellular matrix. The encoded protein is also a rec...

Pfam Domains

V-set_CD47aa 8–142UCSCCD47 immunoglobulin-like domain
CD47aa 144–292UCSCCD47 transmembrane region

Gene Aliases

HGNC Name

CD47 molecule

HGNC Previous Symbol

MER6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001777.4
p.E323D
c.969A>C
Surrounding Variants
1 paper
NM_001777.4
p.E323D
c.969A>T
1 paper
NM_001777.4
p.E323Splc
c.968-6T>G
1 paper
NM_001777.4
p.D322G
c.965A>G
1 paper
NM_001777.4
p.S316T
c.946T>A
1 paper
NM_001777.4
p.V306I
c.916G>A
1 paper
NM_001777.4
p.A305T
c.913G>A
1 paper
NM_001777.4
p.R303_K304Splc
c.909+1G>A
3 papers
NM_001777.4
p.P301S
c.901C>T
1 paper
NM_001777.4
p.Q300H
c.900A>T
1 paper
NM_001777.4
p.Q300H
c.900A>C
1 paper
NM_001777.4
p.I299T
c.896T>C
1 paper
NM_001777.4
p.S294C
c.881C>G
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