Varaico: Literature-Extracted Genetic Variants

Gene:CD47
Variant:p.D64E

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.D64E
c.192T>G
Surrounding Variants
1 paper
NM_001777.4
p.D64E
c.192T>A
1 paper
NM_001777.4
p.D64H
c.190G>C
1 paper
NM_001777.4
p.D64N
c.190G>A
1 paper
NM_001777.4
p.I65_Y66insFs
c.195_196insT
1 paper
NM_001777.4
p.Y66Y
c.198C>T
2 papers
NM_001777.4
p.G70R
c.208G>C
2 papers
NM_001777.4
p.G70R
c.208G>A
1 paper
NM_001777.4
p.K57*
c.169A>T
1 paper
NM_001777.4
p.V56I
c.166G>A
1 paper
NM_001777.4
p.V54I
c.160G>A
1 paper
NM_001777.4
p.T52delFs
c.156delA
1 paper
NM_001777.4
p.T52fs
c.154_155fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."