Varaico: Literature-Extracted Genetic Variants

Gene:CD48
Variant:p.M1L

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.M1L
c.1A>T
Surrounding Variants
2 papers
NM_001778.4
p.M1V
c.1A>G
1 paper
NM_001778.4
p.M1L
c.1A>C
3 papers
NM_001778.4
p.M1T
c.2T>C
1 paper
NM_001778.4
p.M1K
c.2T>A
1 paper
NM_001778.4
p.M1insFs
c.2dupT
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
1 paper
NM_001778.4
p.C2delFs
c.6delG
1 paper
NM_001778.4
p.S3Y
c.8C>A
1 paper
NM_001778.4
p.S3S
c.9C>T
1 paper
NM_001778.4
p.R4*
c.10A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."