Varaico: Literature-Extracted Genetic Variants

Gene:CD47
Variant:p.S216Y

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.S216Y
c.647C>A
Surrounding Variants
3 papers
NM_001777.4
p.T215I
c.644C>T
1 paper
NM_001777.4
p.I219V
c.655A>G
1 paper
NM_001777.4
p.G211D
c.632G>A
5 papers
NM_001777.4
p.G209R
c.625G>C
1 paper
NM_001777.4
p.N206S
c.617A>G
1 paper
NM_001777.4
p.K205E
c.613A>G
1 paper
NM_001777.4
p.S203A
c.607T>G
1 paper
NM_001777.4
p.Y202H
c.604T>C
1 paper
NM_001777.4
p.E201G
c.602A>G
1 paper
NM_001777.4
p.A231V
c.692C>T
1 paper
NM_001777.4
p.G233R
c.697G>C
1 paper
NM_001777.4
p.S236A
c.706T>G
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