Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG

CD40LG

605 papers

RefSeq Summary

The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo i...

Pfam Domains

TNFaa 138–261UCSCTNF(Tumour Necrosis Factor) family

Gene Aliases

HGNC Name

CD40 ligand

HGNC Previous Symbols

HIGM1; IMD3; TNFSF5

Papers
RefSeq ID
Protein change
DNA change
1–12 of 548 variants
36 papers
NM_000074.3
p.T254M
c.761C>T
18 papers
NM_000074.3
p.G219R
c.655G>A
17 papers
NM_000074.3
p.G219R
c.655G>C
16 papers
NM_000074.3
p.L155P
c.464T>C
16 papers
NM_000074.3
p.C218*
c.654C>A
13 papers
NM_000074.3
p.R11*
c.31C>T
12 papers
NM_000074.3
p.M36R
c.107T>G
12 papers
NM_000074.3
p.A123E
c.368C>A
12 papers
NM_000074.3
p.W140*
c.419G>A
12 papers
NM_000074.3
p.W140*
c.420G>A
12 papers
NM_000074.3
p.T147N
c.440C>A
11 papers
NM_000074.3
p.E129G
c.386A>G
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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."