Varaico: Literature-Extracted Genetic Variants

Gene:CD1B
Variant:p.L50*

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.L50*
c.149T>A
Surrounding Variants
1 paper
NM_001764.3
p.L50delFs
c.149delA
1 paper
NM_001764.3
p.D51E
c.153T>G
1 paper
NM_001764.3
p.D51E
c.153T>A
1 paper
NM_001764.3
p.L53M
c.157T>A
1 paper
NM_001764.3
p.S47S
c.141A>G
1 paper
NM_001764.3
p.H56N
c.166C>A
1 paper
NM_001764.3
p.T44N
c.131C>A
1 paper
NM_001764.3
p.W41C
c.123G>T
1 paper
NM_001764.3
p.W41C
c.123G>C
1 paper
NM_001764.3
p.W41L
c.122G>T
1 paper
NM_001764.3
p.D61Y
c.181G>T
1 paper
NM_001764.3
p.S39N
c.116G>A
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