Varaico: Literature-Extracted Genetic Variants

Gene:CD48
Variant:p.T34A

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.T34A
c.100A>G
Surrounding Variants
1 paper
NM_001778.4
p.T34I
c.101C>T
1 paper
NM_001778.4
p.M33R
c.98T>G
1 paper
NM_001778.4
p.V35L
c.103G>C
1 paper
NM_001778.4
p.H32Y
c.94C>T
1 paper
NM_001778.4
p.V31V
c.93A>T
1 paper
NM_001778.4
p.S37P
c.109T>C
1 paper
NM_001778.4
p.L30F
c.90G>T
1 paper
NM_001778.4
p.L30F
c.90G>C
1 paper
NM_001778.4
p.S37F
c.110C>T
1 paper
NM_001778.4
p.S37insFs
c.110_111insGC
1 paper
NM_001778.4
p.L30*
c.89T>A
1 paper
NM_001778.4
p.S37_G38insFs
c.111_112insGC
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