Varaico: Literature-Extracted Genetic Variants

Gene:CD48
Variant:p.L240L

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.L240L
c.720G>A
Surrounding Variants
1 paper
NM_001778.4
p.L241I
c.721T>A
1 paper
NM_001778.4
p.L240M
c.718C>A
1 paper
NM_001778.4
p.G239S
c.715G>A
1 paper
NM_001778.4
p.L238L
c.714T>C
1 paper
NM_001778.4
p.I237F
c.709A>T
1 paper
NM_001778.4
p.I237V
c.709A>G
1 paper
NM_001778.4
p.P235S
c.703C>T
1 paper
NM_001778.4
p.P235A
c.703C>G
1 paper
NM_001778.4
p.V234M
c.700G>A
1 paper
NM_001778.4
p.T233T
c.699G>A
1 paper
NM_001778.4
p.T233R
c.698C>G
1 paper
NM_001778.4
p.T233delins
c.697_698delinsTA
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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."