Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.C105*

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.C105*
c.315T>A
Surrounding Variants
1 paper
NM_001250.6
p.E107del1
c.319_320delGAA
2 papers
NM_001250.6
p.C103*
c.309C>A
11 papers
NM_001250.6
p.C103Y
c.308G>A
1 paper
NM_001250.6
p.G108C
c.322G>T
1 paper
NM_001250.6
p.I102I
c.306C>A
1 paper
NM_001250.6
p.G108G
c.324C>A
1 paper
NM_001250.6
p.T101_I102insFs
c.303_304insA
1 paper
NM_001250.6
p.T101T
c.303C>T
1 paper
NM_001250.6
p.T101_I102delFs
c.303_306del4
1 paper
NM_001250.6
p.T112S
c.334A>T
1 paper
NM_001250.6
p.T99insFs
c.296dupC
1 paper
NM_001250.6
p.T112M
c.335C>T
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