Varaico: Literature-Extracted Genetic Variants

Gene:CD47
Variant:p.F81Y

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.F81Y
c.242T>A
Surrounding Variants
1 paper
NM_001777.4
p.F81L
c.243T>G
2 papers
NM_001777.4
p.F81L
c.241T>C
1 paper
NM_001777.4
p.F81L
c.243T>A
1 paper
NM_001777.4
p.L91S
c.272T>C
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.Y66Y
c.198C>T
1 paper
NM_001777.4
p.I65_Y66insFs
c.195_196insT
1 paper
NM_001777.4
p.D64E
c.192T>G
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
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