Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.I171insFs

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.I171insFs
c.511dupA
Surrounding Variants
1 paper
NM_000074.3
p.I171fs
c.511_512fs
9 papers
NM_000074.3
p.Y170C
c.509A>G
1 paper
NM_000074.3
p.I171fs
c.511_512fs
2 papers
NM_000074.3
p.I171N
c.512T>A
1 paper
NM_000074.3
p.Y170fs
c.508_509fs
1 paper
NM_000074.3
p.Y172delFs
c.514delT
1 paper
NM_000074.3
p.I171delFs
c.511_512delAT
1 paper
NM_000074.3
p.Y169S
c.506A>C
5 papers
NM_000074.3
p.Y169C
c.506A>G
5 papers
NM_000074.3
p.Y172H
c.514T>C
2 papers
NM_000074.3
p.Y172C
c.515A>G
4 papers
NM_000074.3
p.Y169N
c.505T>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."