Varaico: Literature-Extracted Genetic Variants

Gene:CD47
Variant:p.C263R

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.C263R
c.787T>C
Surrounding Variants
1 paper
NM_001777.4
p.C263insFs
c.787_788insC
1 paper
NM_001777.4
p.C263S
c.787T>A
1 paper
NM_001777.4
p.C263S
c.788G>C
1 paper
NM_001777.4
p.A262V
c.785C>T
1 paper
NM_001777.4
p.M266I
c.798G>C
1 paper
NM_001777.4
p.H267Y
c.799C>T
1 paper
NM_001777.4
p.G268S
c.802G>A
1 paper
NM_001777.4
p.G268G
c.804C>T
1 paper
NM_001777.4
p.P269L
c.806C>T
1 paper
NM_001777.4
p.P269P
c.807T>G
1 paper
NM_001777.4
p.L271L
c.811C>T
2 papers
NM_001777.4
p.S276C
c.826A>T
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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."