Varaico: Literature-Extracted Genetic Variants

Gene:CD47
Variant:p.S12T

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
2 papers
NM_001777.4
p.S12T
c.34T>A
Surrounding Variants
17 papers
NM_001777.4
p.G11R
c.31G>C
1 paper
NM_001777.4
p.L9L
c.27G>A
1 paper
NM_001777.4
p.C15S
c.43T>A
1 paper
NM_001777.4
p.C15S
c.44G>C
1 paper
NM_001777.4
p.A6A
c.18G>C
2 papers
NM_001777.4
p.V5L
c.13G>C
1 paper
NM_001777.4
p.V5I
c.13G>A
5 papers
NM_001777.4
p.L4L
c.12G>C
2 papers
NM_001777.4
p.L4L
c.12G>A
1 paper
NM_001777.4
p.L4R
c.11T>G
1 paper
NM_001777.4
p.P3R
c.8C>G
1 paper
NM_001777.4
p.M1I
c.3G>A
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