Varaico: Literature-Extracted Genetic Variants

Gene:CD48
Variant:p.S25R

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.S25R
c.75C>G
Surrounding Variants
1 paper
NM_001778.4
p.S25R
c.75C>A
1 paper
NM_001778.4
p.S25R
c.73A>C
1 paper
NM_001778.4
p.Q27*
c.79C>T
1 paper
NM_001778.4
p.T24S
c.71C>G
1 paper
NM_001778.4
p.L22insFs
c.64_65insT
1 paper
NM_001778.4
p.L21F
c.61C>T
2 papers
NM_001778.4
p.L21I
c.61C>A
1 paper
NM_001778.4
p.S20T
c.58T>A
1 paper
NM_001778.4
p.P18R
c.53C>G
1 paper
NM_001778.4
p.L16P
c.47T>C
1 paper
NM_001778.4
p.L16L
c.46C>T
2 papers
NM_001778.4
p.L15Q
c.44T>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."