Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.Q36Q

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.Q36Q
c.108G>A
Surrounding Variants
1 paper
NM_001250.6
p.C37R
c.109T>C
3 papers
NM_001250.6
p.C37G
c.109T>G
2 papers
NM_001250.6
p.C37insFs
c.110_111insC
1 paper
NM_001250.6
p.S35N
c.104G>A
1 paper
NM_001250.6
p.S39_C41ins1
c.116_121dup6
1 paper
NM_001250.6
p.S39F
c.116C>T
2 papers
NM_001250.6
p.I33K
c.98T>A
1 paper
NM_001250.6
p.I33fs
c.97_98fs
1 paper
NM_001250.6
p.L32L
c.96A>G
1 paper
NM_001250.6
p.L40F
c.120G>C
1 paper
NM_001250.6
p.L40F
c.120G>T
1 paper
NM_001250.6
p.L32P
c.95T>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."