Varaico: Literature-Extracted Genetic Variants

Gene:CD48
Variant:p.N40I

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.N40I
c.119A>T
Surrounding Variants
1 paper
NM_001778.4
p.N40S
c.119A>G
1 paper
NM_001778.4
p.G38A
c.113G>C
1 paper
NM_001778.4
p.T42delFs
c.124_125delGT
1 paper
NM_001778.4
p.G38R
c.112G>C
1 paper
NM_001778.4
p.S37_G38insFs
c.111_112insGC
1 paper
NM_001778.4
p.S37S
c.111C>A
1 paper
NM_001778.4
p.L43Q
c.128T>A
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.S37P
c.109T>C
1 paper
NM_001778.4
p.N44I
c.131A>T
1 paper
NM_001778.4
p.N44K
c.132C>A
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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."