Varaico: Literature-Extracted Genetic Variants

Gene:CD83
Variant:p.C100S

CD83

79 papers

RefSeq Summary

The protein encoded by this gene is a single-pass type I membrane protein and member of the immunoglobulin superfamily of receptors. The encoded protein may be involved in the regulation of antigen pr...

Pfam Domains

igaa 2–60UCSCImmunoglobulin domain
V-setaa 19–127UCSCImmunoglobulin V-set domain

Gene Aliases

HGNC Name

CD83 molecule

HGNC Alias Symbols

HB15; BL11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004233.4
p.C100S
c.298T>A
Surrounding Variants
1 paper
NM_004233.4
p.C100G
c.298T>G
1 paper
NM_004233.4
p.C100S
c.299G>C
1 paper
NM_004233.4
p.G103E
c.308G>A
1 paper
NM_004233.4
p.P89S
c.265C>T
1 paper
NM_004233.4
p.R88_P89delins
c.264_265delinsAT
2 papers
NM_004233.4
p.N86S
c.257A>G
1 paper
NM_004233.4
p.G114R
c.340G>A
1 paper
NM_004233.4
p.G114R
c.340G>C
1 paper
NM_004233.4
p.G114V
c.341G>T
1 paper
NM_004233.4
p.Q115*
c.343C>T
1 paper
NM_004233.4
p.G77A
c.230G>C
1 paper
NM_004233.4
p.H74R
c.221A>G
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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."