Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.K133*

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.K133*
c.397A>T
Surrounding Variants
1 paper
NM_000074.3
p.T134delFs
c.400delA
1 paper
NM_000074.3
p.S132ins2
c.395_396ins6
1 paper
NM_000074.3
p.T134fs
c.400_401fs
1 paper
NM_000074.3
p.T135A
c.403A>G
1 paper
NM_000074.3
p.S131fs
c.391_392fs
1 paper
NM_000074.3
p.S131insFs
c.391dupA
1 paper
NM_000074.3
p.E129A
c.386A>C
11 papers
NM_000074.3
p.E129G
c.386A>G
1 paper
NM_000074.3
p.E129V
c.386A>T
2 papers
NM_000074.3
p.E129*
c.385G>T
1 paper
NM_000074.3
p.V137Splc
c.409+1G>A
10 papers
NM_000074.3
p.V137Splc
c.409+1G>C
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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."