Varaico: Literature-Extracted Genetic Variants

Gene:CD1B
Variant:p.E80A

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
2 papers
NM_001764.3
p.E80A
c.239A>C
Surrounding Variants
1 paper
NM_001764.3
p.V81A
c.242T>C
1 paper
NM_001764.3
p.L84S
c.251T>C
1 paper
NM_001764.3
p.E85Q
c.253G>C
1 paper
NM_001764.3
p.D61Y
c.181G>T
3 papers
NM_001764.3
p.G104S
c.310G>A
1 paper
NM_001764.3
p.H56N
c.166C>A
1 paper
NM_001764.3
p.Q107K
c.319C>A
1 paper
NM_001764.3
p.L53M
c.157T>A
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.L50delFs
c.149delA
1 paper
NM_001764.3
p.L50*
c.149T>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."