Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.K260Q

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
1 paper
NM_000074.3
p.K260Q
c.778A>C
Surrounding Variants
1 paper
NM_000074.3
p.L261fs
c.781_782fs
4 papers
NM_000074.3
p.L261P
c.782T>C
1 paper
NM_000074.3
p.L258*
c.773T>A
6 papers
NM_000074.3
p.L258S
c.773T>C
1 paper
NM_000074.3
p.L258*
c.773T>G
1 paper
NM_000074.3
p.L258fs
c.772_773fs
4 papers
NM_000074.3
p.G257D
c.770G>A
1 paper
NM_000074.3
p.G257delFs
c.771delC
3 papers
NM_000074.3
p.G257S
c.769G>A
2 papers
NM_000074.3
p.F256S
c.767T>C
1 paper
NM_000074.3
p.S255P
c.763T>C
1 paper
NM_000074.3
p.T254R
c.761C>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."