Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.A123E

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
12 papers
NM_000074.3
p.A123E
c.368C>A
Surrounding Variants
3 papers
NM_000074.3
p.A123T
c.367G>A
1 paper
NM_000074.3
p.A123P
c.367G>C
1 paper
NM_000074.3
p.A123A
c.369G>C
1 paper
NM_000074.3
p.H125N
c.373C>A
1 paper
NM_000074.3
p.H125fs
c.373_374fs
4 papers
NM_000074.3
p.H125Y
c.373C>T
3 papers
NM_000074.3
p.H125delFs
c.374_375delAT
2 papers
NM_000074.3
p.H125fs
c.373_374fs
1 paper
NM_000074.3
p.H125P
c.374A>C
5 papers
NM_000074.3
p.H125R
c.374A>G
1 paper
NM_000074.3
p.Q121_I122ins6
c.361_365ins18
5 papers
NM_000074.3
p.V126D
c.377T>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."