Varaico: Literature-Extracted Genetic Variants

Gene:CD1C
Variant:p.R89C

CD1C

60 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 1–199UCSCMHC-I family domain
C1-setaa 208–287UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

CD1c molecule

HGNC Previous Names

CD1C antigen, c polypeptide; CD1c antigen

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001765.3
p.R89C
c.265C>T
Surrounding Variants
1 paper
NM_001765.3
p.L84P
c.251T>C
1 paper
NM_001765.3
p.S104I
c.311G>T
1 paper
NM_001765.3
p.N70T
c.209A>C
1 paper
NM_001765.3
p.Y107*
c.321C>A
1 paper
NM_001765.3
p.T64insFs
c.190_191ins20
1 paper
NM_001765.3
p.D59H
c.175G>C
1 paper
NM_001765.3
p.E52K
c.154G>A
1 paper
NM_001765.3
p.D51D
c.153C>T
1 paper
NM_001765.3
p.R43*
c.127C>T
1 paper
NM_001765.3
p.S40Y
c.119C>A
1 paper
NM_001765.3
p.F36I
c.106T>A
1 paper
NM_001765.3
p.S35S
c.105A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."