Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.F253_F256del0

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.F253_F256del0
c.759_767del9
Surrounding Variants
1 paper
NM_000074.3
p.G252D
c.755G>A
4 papers
NM_000074.3
p.F253I
c.757T>A
1 paper
NM_000074.3
p.T254delFs
c.760delA
1 paper
NM_000074.3
p.T254fs
c.760_761fs
1 paper
NM_000074.3
p.T254P
c.760A>C
1 paper
NM_000074.3
p.T254R
c.761C>G
36 papers
NM_000074.3
p.T254M
c.761C>T
1 paper
NM_000074.3
p.G250D
c.749G>A
1 paper
NM_000074.3
p.G250A
c.749G>C
1 paper
NM_000074.3
p.S255P
c.763T>C
1 paper
NM_000074.3
p.H249insFs
c.747dupT
1 paper
NM_000074.3
p.H249Y
c.745C>T
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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."