Varaico: Literature-Extracted Genetic Variants

Gene:CD47
Variant:p.E124E

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.E124E
c.372A>G
Surrounding Variants
1 paper
NM_001777.4
p.T125M
c.374C>T
1 paper
NM_001777.4
p.G123S
c.367G>A
1 paper
NM_001777.4
p.I127V
c.379A>G
1 paper
NM_001777.4
p.I127T
c.380T>C
1 paper
NM_001777.4
p.R132C
c.394C>T
1 paper
NM_001777.4
p.R132H
c.395G>A
1 paper
NM_001777.4
p.T109_G110insFs
c.327_328insCA
1 paper
NM_001777.4
p.S107S
c.321A>G
1 paper
NM_001777.4
p.V106V
c.318C>T
1 paper
NM_001777.4
p.D104G
c.311A>G
1 paper
NM_001777.4
p.D104N
c.310G>A
1 paper
NM_001777.4
p.S103N
c.308G>A
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