Varaico: Literature-Extracted Genetic Variants

Gene:CD48
Variant:p.K114R

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.K114R
c.341A>G
Surrounding Variants
2 papers
NM_001778.4
p.T115N
c.344C>A
1 paper
NM_001778.4
p.K113E
c.337A>G
1 paper
NM_001778.4
p.L112F
c.336G>T
1 paper
NM_001778.4
p.G116R
c.346G>C
1 paper
NM_001778.4
p.L112F
c.336G>C
1 paper
NM_001778.4
p.G116R
c.346G>A
1 paper
NM_001778.4
p.N117H
c.349A>C
1 paper
NM_001778.4
p.V111A
c.332T>C
1 paper
NM_001778.4
p.N117S
c.350A>G
1 paper
NM_001778.4
p.R110_V111insGC
c.328_332ins6
1 paper
NM_001778.4
p.E120A
c.359A>C
1 paper
NM_001778.4
p.W121S
c.362G>C
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