Varaico: Literature-Extracted Genetic Variants

Gene:CD48
Variant:p.S220delFs

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.S220delFs
c.658delA
Surrounding Variants
1 paper
NM_001778.4
p.S220F
c.659C>T
3 papers
NM_001778.4
p.S220Y
c.659C>A
1 paper
NM_001778.4
p.R219R
c.657G>C
1 paper
NM_001778.4
p.F221S
c.662T>C
1 paper
NM_001778.4
p.S220_V223delFs
c.659_668del10
1 paper
NM_001778.4
p.E224G
c.671A>G
1 paper
NM_001778.4
p.A227insFs
c.679_680insAG
1 paper
NM_001778.4
p.A227insFs
c.680_681insA
1 paper
NM_001778.4
p.A227E
c.680C>A
1 paper
NM_001778.4
p.V232F
c.694G>T
1 paper
NM_001778.4
p.T233R
c.698C>G
1 paper
NM_001778.4
p.T233delins
c.697_698delinsTA
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