Varaico: Literature-Extracted Genetic Variants

Gene:CD80
Variant:p.R286H

CD80

281 papers

RefSeq Summary

The protein encoded by this gene is a membrane receptor that is activated by the binding of CD28 or CTLA-4. The activated protein induces T-cell proliferation and cytokine production. This protein can...

Pfam Domains

V-setaa 36–137UCSCImmunoglobulin V-set domain
C2-set_2aa 141–227UCSCCD80-like C2-set immunoglobulin domain

Gene Aliases

HGNC Name

CD80 molecule

HGNC Previous Symbols

CD28LG; CD28LG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005191.4
p.R286H
c.857G>A
Surrounding Variants
2 papers
NM_005191.4
p.R286C
c.856C>T
1 paper
NM_005191.4
p.V285G
c.854T>G
1 paper
NM_005191.4
p.V285A
c.854T>C
1 paper
NM_005191.4
p.V288A
c.863T>C
1 paper
NM_005191.4
p.S284I
c.851G>T
1 paper
NM_005191.4
p.V288V
c.864A>G
1 paper
NM_005191.4
p.E283V
c.848A>T
1 paper
NM_005191.4
p.E278D
c.834G>T
1 paper
NM_005191.4
p.E278D
c.834G>C
1 paper
NM_005191.4
p.R274G
c.820A>G
1 paper
NM_005191.4
p.F267S
c.800T>C
1 paper
NM_005191.4
p.S253_I260del0
c.758_778del21
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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."