Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.W11R

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
2 papers
NM_001250.6
p.W11R
c.31T>C
Surrounding Variants
1 paper
NM_001250.6
p.W11*
c.32G>A
1 paper
NM_001250.6
p.W11*
c.33G>A
1 paper
NM_001250.6
p.L10R
c.29T>G
1 paper
NM_001250.6
p.L10F
c.28C>T
1 paper
NM_001250.6
p.G12S
c.34G>A
3 papers
NM_001250.6
p.G12D
c.35G>A
1 paper
NM_001250.6
p.G12G
c.36C>T
1 paper
NM_001250.6
p.C8C
c.24C>T
1 paper
NM_001250.6
p.C13Y
c.38G>A
1 paper
NM_001250.6
p.C8G
c.22T>G
1 paper
NM_001250.6
p.L6L
c.18G>C
1 paper
NM_001250.6
p.L15delFs
c.45delG
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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."