Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.N86Splc

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.N86Splc
c.256+1G>A
Surrounding Variants
1 paper
NM_001250.6
p.N86Splc
c.256+1G>T
7 papers
NM_001250.6
p.N86Splc
c.256+2T>C
1 paper
NM_001250.6
p.P85R
c.254C>G
1 paper
NM_001250.6
p.N86Splc
c.256+4C>T
1 paper
NM_001250.6
p.N86Splc
c.256+5G>C
3 papers
NM_001250.6
p.D84E
c.252C>A
3 papers
NM_001250.6
p.D84E
c.252C>G
2 papers
NM_001250.6
p.D84A
c.251A>C
1 paper
NM_001250.6
p.D84delFs
c.252delC
1 paper
NM_001250.6
p.D84N
c.250G>A
6 papers
NM_001250.6
p.C83R
c.247T>C
1 paper
NM_001250.6
p.K81_Y82insFs
c.243_244insT
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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."