Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.Y172*

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
2 papers
NM_000074.3
p.Y172*
c.516T>G
Surrounding Variants
3 papers
NM_000074.3
p.Y172*
c.516T>A
2 papers
NM_000074.3
p.Y172C
c.515A>G
1 paper
NM_000074.3
p.A173P
c.517G>C
1 paper
NM_000074.3
p.Q174delFs
c.520delC
4 papers
NM_000074.3
p.A173D
c.518C>A
2 papers
NM_000074.3
p.A173G
c.518C>G
5 papers
NM_000074.3
p.Y172H
c.514T>C
1 paper
NM_000074.3
p.Y172delFs
c.514delT
2 papers
NM_000074.3
p.Q174fs
c.520_521fs
4 papers
NM_000074.3
p.Q174*
c.520C>T
1 paper
NM_000074.3
p.Q174delFs
c.521delA
2 papers
NM_000074.3
p.I171N
c.512T>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."