Varaico: Literature-Extracted Genetic Variants

Gene:CD48
Variant:p.K54E

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.K54E
c.160A>G
Surrounding Variants
1 paper
NM_001778.4
p.K54*
c.160A>T
1 paper
NM_001778.4
p.Q55R
c.164A>G
1 paper
NM_001778.4
p.N52S
c.155A>G
1 paper
NM_001778.4
p.N52T
c.155A>C
1 paper
NM_001778.4
p.N52Y
c.154A>T
1 paper
NM_001778.4
p.N52D
c.154A>G
1 paper
NM_001778.4
p.P50L
c.149C>T
1 paper
NM_001778.4
p.W58S
c.173G>C
1 paper
NM_001778.4
p.L49P
c.146T>C
1 paper
NM_001778.4
p.L49V
c.145C>G
1 paper
NM_001778.4
p.S48S
c.144C>T
1 paper
NM_001778.4
p.E47fs
c.139_140fs
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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."