Varaico: Literature-Extracted Genetic Variants

Gene:CD48

CD48

408 papers

RefSeq Summary

This gene encodes a member of the CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface o...

Pfam Domains

V-setaa 31–128UCSCImmunoglobulin V-set domain
Ig_2aa 133–217UCSCImmunoglobulin domain
Ig_2aa 133–218UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

CD48 molecule

HGNC Previous Symbol

BCM1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 260 variants
6 papers
NM_001778.4
p.E102Q
c.304G>C
3 papers
NM_001778.4
p.M1T
c.2T>C
3 papers
NM_001778.4
p.W69R
c.205T>C
3 papers
NM_001778.4
p.G92G
c.276C>T
3 papers
NM_001778.4
p.S220Y
c.659C>A
2 papers
NM_001778.4
p.M1V
c.1A>G
2 papers
NM_001778.4
p.R4K
c.11G>A
2 papers
NM_001778.4
p.S8*
c.23C>A
2 papers
NM_001778.4
p.L15Q
c.44T>A
2 papers
NM_001778.4
p.L21I
c.61C>A
2 papers
NM_001778.4
p.E47G
c.140A>G
2 papers
NM_001778.4
p.W69R
c.205T>A
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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."