Varaico: Literature-Extracted Genetic Variants

Gene:CD47

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
1–12 of 135 variants
17 papers
NM_001777.4
p.G11R
c.31G>C
5 papers
NM_001777.4
p.L4L
c.12G>C
5 papers
NM_001777.4
p.G209R
c.625G>C
3 papers
NM_001777.4
p.T215I
c.644C>T
3 papers
NM_001777.4
p.P301S
c.901C>T
2 papers
NM_001777.4
p.L4L
c.12G>A
2 papers
NM_001777.4
p.V5L
c.13G>C
2 papers
NM_001777.4
p.S12T
c.34T>A
2 papers
NM_001777.4
p.Q19insFs
c.56dupA
2 papers
NM_001777.4
p.T31T
c.93G>A
2 papers
NM_001777.4
p.G70R
c.208G>C
2 papers
NM_001777.4
p.G70R
c.208G>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."