Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.E275delFs

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.E275delFs
c.823delG
Surrounding Variants
2 papers
NM_001250.6
p.I271_R276del0
c.811_828del18
2 papers
NM_001250.6
p.R270H
c.809G>A
1 paper
NM_001250.6
p.*278*
c.833G>A
1 paper
NM_001250.6
p.R270delFs
c.808_809delCG
1 paper
NM_001250.6
p.E268delFs
c.804delG
1 paper
NM_001250.6
p.K267R
c.800A>G
1 paper
NM_001250.6
p.G266D
c.797G>A
1 paper
NM_001250.6
p.G266A
c.797G>C
1 paper
NM_001250.6
p.G266_E268del3
c.796_803del9
1 paper
NM_001250.6
p.T262T
c.786C>T
1 paper
NM_001250.6
p.T262A
c.784A>G
1 paper
NM_001250.6
p.P260L
c.779C>T
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