Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.Q221*

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
Selected Variant
3 papers
NM_000074.3
p.Q221*
c.661C>T
Surrounding Variants
1 paper
NM_000074.3
p.Q221fs
c.661_662fs
1 paper
NM_000074.3
p.Q221P
c.662A>C
1 paper
NM_000074.3
p.Q221_S222insFs
c.663_664insTT
2 papers
NM_000074.3
p.Q220R
c.659A>G
5 papers
NM_000074.3
p.Q220*
c.658C>T
1 paper
NM_000074.3
p.S222Y
c.665C>A
1 paper
NM_000074.3
p.S222F
c.665C>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.C218*
c.654C>A
1 paper
NM_000074.3
p.G219delFs
c.656_657delGG
1 paper
NM_000074.3
p.G219del1
c.655_656delGGG
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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."