Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.A14A

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.A14A
c.42C>G
Surrounding Variants
1 paper
NM_000074.3
p.A13A
c.39G>A
1 paper
NM_000074.3
p.G16R
c.46G>A
1 paper
NM_000074.3
p.G16R
c.46G>C
1 paper
NM_000074.3
p.G16G
c.48A>G
1 paper
NM_000074.3
p.S12F
c.35C>T
1 paper
NM_000074.3
p.L17P
c.50T>C
2 papers
NM_000074.3
p.P18S
c.52C>T
1 paper
NM_000074.3
p.R11R
c.31C>A
13 papers
NM_000074.3
p.R11*
c.31C>T
1 paper
NM_000074.3
p.I19F
c.55A>T
2 papers
NM_000074.3
p.P10S
c.28C>T
1 paper
NM_000074.3
p.S9S
c.27T>A
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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."