Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.K29E

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.K29E
c.85A>G
Surrounding Variants
1 paper
NM_001250.6
p.K29delFs
c.86_87delAA
3 papers
NM_001250.6
p.I33del1
c.97_98delATA
1 paper
NM_001250.6
p.L32P
c.95T>C
1 paper
NM_001250.6
p.L32L
c.96A>G
1 paper
NM_001250.6
p.I33fs
c.97_98fs
1 paper
NM_001250.6
p.A25P
c.73G>C
2 papers
NM_001250.6
p.I33K
c.98T>A
1 paper
NM_001250.6
p.T24A
c.70A>G
1 paper
NM_001250.6
p.P23H
c.68C>A
1 paper
NM_001250.6
p.S35N
c.104G>A
1 paper
NM_001250.6
p.E21D
c.63A>C
1 paper
NM_001250.6
p.E21D
c.63A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."