Varaico: Literature-Extracted Genetic Variants

Gene:CD48
Variant:p.K73E

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
Selected Variant
1 paper
NM_001778.4
p.K73E
c.217A>G
Surrounding Variants
1 paper
NM_001778.4
p.R72K
c.215G>A
1 paper
NM_001778.4
p.S74A
c.220T>G
1 paper
NM_001778.4
p.R72G
c.214A>G
1 paper
NM_001778.4
p.S71S
c.213C>T
1 paper
NM_001778.4
p.S74Y
c.221C>A
1 paper
NM_001778.4
p.S71F
c.212C>T
1 paper
NM_001778.4
p.D70A
c.209A>C
1 paper
NM_001778.4
p.D70N
c.208G>A
1 paper
NM_001778.4
p.Q64_Y76delFs
c.190_226del37
1 paper
NM_001778.4
p.Y76*
c.228C>G
1 paper
NM_001778.4
p.Y76*
c.228C>A
3 papers
NM_001778.4
p.W69R
c.205T>C
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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."