Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.T112S

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.T112S
c.334A>T
Surrounding Variants
1 paper
NM_001250.6
p.T112M
c.335C>T
1 paper
NM_001250.6
p.S113T
c.338G>C
2 papers
NM_001250.6
p.E114A
c.341A>C
1 paper
NM_001250.6
p.G108G
c.324C>A
1 paper
NM_001250.6
p.A115D
c.344C>A
1 paper
NM_001250.6
p.A115V
c.344C>T
1 paper
NM_001250.6
p.G108C
c.322G>T
1 paper
NM_001250.6
p.E117A
c.350A>C
1 paper
NM_001250.6
p.C105*
c.315T>A
1 paper
NM_001250.6
p.E107del1
c.319_320delGAA
2 papers
NM_001250.6
p.C119S
c.355T>A
2 papers
NM_001250.6
p.C119S
c.356G>C
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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."