Varaico: Literature-Extracted Genetic Variants

Gene:CD48
Variant:p.G5R

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.G5R
c.13G>C
Surrounding Variants
2 papers
NM_001778.4
p.R4K
c.11G>A
1 paper
NM_001778.4
p.R4*
c.10A>T
1 paper
NM_001778.4
p.R4_G5insC
c.10_14ins3
1 paper
NM_001778.4
p.S3S
c.9C>T
1 paper
NM_001778.4
p.S3Y
c.8C>A
1 paper
NM_001778.4
p.C2delFs
c.6delG
1 paper
NM_001778.4
p.D7N
c.19G>A
1 paper
NM_001778.4
p.D7insFs
c.19_20insG
1 paper
NM_001778.4
p.D7delFs
c.19delC
1 paper
NM_001778.4
p.M1insFs
c.3dupG
1 paper
NM_001778.4
p.C2insFs
c.4_5insC
1 paper
NM_001778.4
p.M1del1
c.1_2delCAT
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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."