Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.Q139*

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.Q139*
c.415C>T
Surrounding Variants
1 paper
NM_000074.3
p.Q139K
c.415C>A
1 paper
NM_000074.3
p.Q139fs
c.415_416fs
2 papers
NM_000074.3
p.L138F
c.414A>C
2 papers
NM_000074.3
p.L138F
c.414A>T
1 paper
NM_000074.3
p.Q139delFs
c.415delC
1 paper
NM_000074.3
p.L138S
c.413T>C
10 papers
NM_000074.3
p.W140R
c.418T>A
10 papers
NM_000074.3
p.W140R
c.418T>C
9 papers
NM_000074.3
p.W140G
c.418T>G
1 paper
NM_000074.3
p.L138fs
c.412_413fs
12 papers
NM_000074.3
p.W140*
c.419G>A
1 paper
NM_000074.3
p.V137_L138insFs
c.411_412insC
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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."