Varaico: Literature-Extracted Genetic Variants

Gene:CD48
Variant:p.L14*

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.L14*
c.41T>A
Surrounding Variants
2 papers
NM_001778.4
p.L15Q
c.44T>A
1 paper
NM_001778.4
p.E13A
c.38A>C
1 paper
NM_001778.4
p.L16L
c.46C>T
1 paper
NM_001778.4
p.L16P
c.47T>C
1 paper
NM_001778.4
p.L12L
c.34C>T
1 paper
NM_001778.4
p.A11A
c.33T>A
1 paper
NM_001778.4
p.L10P
c.29T>C
1 paper
NM_001778.4
p.P18R
c.53C>G
1 paper
NM_001778.4
p.S20T
c.58T>A
2 papers
NM_001778.4
p.S8*
c.23C>A
1 paper
NM_001778.4
p.L21F
c.61C>T
2 papers
NM_001778.4
p.L21I
c.61C>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."