Varaico: Literature-Extracted Genetic Variants

Gene:CD47
Variant:p.V28E

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.V28E
c.83T>A
Surrounding Variants
2 papers
NM_001777.4
p.T31T
c.93G>A
1 paper
NM_001777.4
p.K24E
c.70A>G
1 paper
NM_001777.4
p.N34I
c.101A>T
1 paper
NM_001777.4
p.N34K
c.102T>A
1 paper
NM_001777.4
p.D35N
c.103G>A
1 paper
NM_001777.4
p.T36T
c.108T>C
2 papers
NM_001777.4
p.Q19insFs
c.56dupA
1 paper
NM_001777.4
p.A18T
c.52G>A
1 paper
NM_001777.4
p.I39V
c.115A>G
1 paper
NM_001777.4
p.P40insFs
c.118_119insAC
1 paper
NM_001777.4
p.G16Splc
c.47-6T>C
1 paper
NM_001777.4
p.E47D
c.141G>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."