Varaico: Literature-Extracted Genetic Variants

Gene:CD80
Variant:p.S253_I260del0

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
1 paper
NM_005191.4
p.S253_I260del0
c.758_778del21
Surrounding Variants
1 paper
NM_005191.4
p.V254L
c.760G>T
1 paper
NM_005191.4
p.V254L
c.760G>C
1 paper
NM_005191.4
p.S253T
c.757T>A
1 paper
NM_005191.4
p.W247C
c.741G>T
1 paper
NM_005191.4
p.W247C
c.741G>C
1 paper
NM_005191.4
p.W247*
c.741G>A
1 paper
NM_005191.4
p.W247*
c.740G>A
1 paper
NM_005191.4
p.T234A
c.700A>G
1 paper
NM_005191.4
p.F267S
c.800T>C
1 paper
NM_005191.4
p.R274G
c.820A>G
1 paper
NM_005191.4
p.E278D
c.834G>T
1 paper
NM_005191.4
p.E278D
c.834G>C
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