Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.I134T

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.I134T
c.401T>C
Surrounding Variants
1 paper
NM_001250.6
p.K132ins2
c.395_396ins6
1 paper
NM_001250.6
p.G128S
c.382G>A
1 paper
NM_001250.6
p.S126L
c.377C>T
1 paper
NM_001250.6
p.C125delFs
c.374_375delGC
2 papers
NM_001250.6
p.S124L
c.371C>T
2 papers
NM_001250.6
p.C119S
c.356G>C
2 papers
NM_001250.6
p.C119S
c.355T>A
1 paper
NM_001250.6
p.E117A
c.350A>C
1 paper
NM_001250.6
p.A115D
c.344C>A
1 paper
NM_001250.6
p.A115V
c.344C>T
2 papers
NM_001250.6
p.E114A
c.341A>C
1 paper
NM_001250.6
p.S113T
c.338G>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."