Varaico: Literature-Extracted Genetic Variants

Gene:CD48
Variant:p.V99A

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.V99A
c.296T>C
Surrounding Variants
1 paper
NM_001778.4
p.V99V
c.297C>A
1 paper
NM_001778.4
p.K98K
c.294G>A
1 paper
NM_001778.4
p.Q100fs
c.298_299fs
1 paper
NM_001778.4
p.Q100L
c.299A>T
1 paper
NM_001778.4
p.Q100delFs
c.298delG
1 paper
NM_001778.4
p.K101Q
c.301A>C
6 papers
NM_001778.4
p.E102Q
c.304G>C
1 paper
NM_001778.4
p.E102V
c.305A>T
1 paper
NM_001778.4
p.D103N
c.307G>A
1 paper
NM_001778.4
p.Y95F
c.284A>T
1 paper
NM_001778.4
p.D103G
c.308A>G
1 paper
NM_001778.4
p.D103A
c.308A>C
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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."