Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.E21K

CD40

743 papers

RefSeq Summary

This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and i...

Pfam Domains

TNFR_c6aa 62–103UCSCTNFR/NGFR cysteine-rich region
TNFR_c6aa 146–186UCSCTNFR/NGFR cysteine-rich region

Gene Aliases

HGNC Name

CD40 molecule

HGNC Previous Symbol

TNFRSF5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001250.6
p.E21K
c.61G>A
Surrounding Variants
1 paper
NM_001250.6
p.E21D
c.63A>C
1 paper
NM_001250.6
p.E21D
c.63A>T
1 paper
NM_001250.6
p.P20A
c.58C>G
1 paper
NM_001250.6
p.P23H
c.68C>A
1 paper
NM_001250.6
p.H19delFs
c.55delC
1 paper
NM_001250.6
p.T24A
c.70A>G
1 paper
NM_001250.6
p.A17_V18Splc
c.52-1G>A
1 paper
NM_001250.6
p.A25P
c.73G>C
1 paper
NM_001250.6
p.A17_V18Splc
c.52-3T>G
1 paper
NM_001250.6
p.A17_V18Splc
c.52-6T>C
1 paper
NM_001250.6
p.K29delFs
c.86_87delAA
1 paper
NM_001250.6
p.K29E
c.85A>G
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