Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.D241G

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.D241G
c.722A>G
Surrounding Variants
1 paper
NM_001250.6
p.L242F
c.724C>T
1 paper
NM_001250.6
p.L242P
c.725T>C
1 paper
NM_001250.6
p.P239L
c.716C>T
2 papers
NM_001250.6
p.F238S
c.713T>C
1 paper
NM_001250.6
p.F238delFs
c.714delT
1 paper
NM_001250.6
p.S245F
c.734C>T
2 papers
NM_001250.6
p.N237D
c.709A>G
1 paper
NM_001250.6
p.I236T
c.707T>C
1 paper
NM_001250.6
p.E235D
c.705G>T
1 paper
NM_001250.6
p.E235A
c.704A>C
1 paper
NM_001250.6
p.T247N
c.740C>A
1 paper
NM_001250.6
p.Q234ins7
c.700_701ins21
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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."