Varaico: Literature-Extracted Genetic Variants

Gene:CD1B
Variant:p.L142L

CD1B

65 papers

RefSeq Summary

This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-mic...

Pfam Domains

MHC_I_3aa 1–198UCSCMHC-I family domain
C1-setaa 210–286UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

CD1b molecule

HGNC Previous Names

CD1B antigen, b polypeptide; CD1b antigen

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001764.3
p.L142L
c.424C>T
Surrounding Variants
1 paper
NM_001764.3
p.G137R
c.409G>C
1 paper
NM_001764.3
p.G137R
c.409G>A
2 papers
NM_001764.3
p.R133K
c.398G>A
1 paper
NM_001764.3
p.Q160*
c.478C>T
1 paper
NM_001764.3
p.K161N
c.483A>T
1 paper
NM_001764.3
p.K161N
c.483A>C
1 paper
NM_001764.3
p.F162L
c.484T>C
1 paper
NM_001764.3
p.F162L
c.486C>G
1 paper
NM_001764.3
p.F162L
c.486C>A
1 paper
NM_001764.3
p.G116A
c.347G>C
1 paper
NM_001764.3
p.G116D
c.347G>A
1 paper
NM_001764.3
p.I114T
c.341T>C
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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."