Varaico: Literature-Extracted Genetic Variants

Gene:CD48
Variant:p.D103G

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.D103G
c.308A>G
Surrounding Variants
1 paper
NM_001778.4
p.D103A
c.308A>C
1 paper
NM_001778.4
p.D103N
c.307G>A
1 paper
NM_001778.4
p.D103E
c.309C>G
1 paper
NM_001778.4
p.D103E
c.309C>A
1 paper
NM_001778.4
p.N104I
c.311A>T
1 paper
NM_001778.4
p.E102V
c.305A>T
6 papers
NM_001778.4
p.E102Q
c.304G>C
1 paper
NM_001778.4
p.N104K
c.312C>G
1 paper
NM_001778.4
p.N104K
c.312C>A
1 paper
NM_001778.4
p.K101Q
c.301A>C
1 paper
NM_001778.4
p.Q100L
c.299A>T
1 paper
NM_001778.4
p.Q100delFs
c.298delG
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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."