Varaico: Literature-Extracted Genetic Variants

Gene:CD1C
Variant:p.I181L

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
2 papers
NM_001765.3
p.I181L
c.541A>T
Surrounding Variants
2 papers
NM_001765.3
p.I181L
c.541A>C
1 paper
NM_001765.3
p.R187Q
c.560G>A
1 paper
NM_001765.3
p.V173I
c.517G>A
1 paper
NM_001765.3
p.G196R
c.586G>A
1 paper
NM_001765.3
p.G196R
c.586G>C
1 paper
NM_001765.3
p.L142L
c.426G>A
1 paper
NM_001765.3
p.V134E
c.401T>A
2 papers
NM_001765.3
p.Q115*
c.343C>T
1 paper
NM_001765.3
p.R213L
c.638G>T
1 paper
NM_001765.3
p.A258V
c.773C>T
2 papers
NM_001765.3
p.Q265*
c.793C>T
1 paper
NM_001765.3
p.E269insFs
c.806_807insA
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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."