Varaico: Literature-Extracted Genetic Variants

Gene:CD48
Variant:p.F62L

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.F62L
c.186C>A
Surrounding Variants
1 paper
NM_001778.4
p.F62S
c.185T>C
1 paper
NM_001778.4
p.F62V
c.184T>G
1 paper
NM_001778.4
p.D63G
c.188A>G
1 paper
NM_001778.4
p.D63A
c.188A>C
1 paper
NM_001778.4
p.T61S
c.182C>G
1 paper
NM_001778.4
p.T61S
c.181A>T
1 paper
NM_001778.4
p.T61A
c.181A>G
1 paper
NM_001778.4
p.Y60Y
c.180T>C
1 paper
NM_001778.4
p.K65T
c.194A>C
1 paper
NM_001778.4
p.K65_I66insFs
c.195_196insT
1 paper
NM_001778.4
p.K65K
c.195G>A
1 paper
NM_001778.4
p.I66F
c.196A>T
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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."