Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.R165*

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.R165*
c.493A>T
Surrounding Variants
3 papers
NM_000074.3
p.R165fs
c.493_494fs
1 paper
NM_000074.3
p.R165insFs
c.493_494dupAG
1 paper
NM_000074.3
p.R165S
c.495A>C
1 paper
NM_000074.3
p.R165_Q166delFs
c.494_498del5
2 papers
NM_000074.3
p.Q166K
c.496C>A
1 paper
NM_000074.3
p.Q166fs
c.496_497fs
3 papers
NM_000074.3
p.Q166*
c.496C>T
1 paper
NM_000074.3
p.G167delFs
c.500delG
6 papers
NM_000074.3
p.G167R
c.499G>A
5 papers
NM_000074.3
p.G167R
c.499G>C
1 paper
NM_000074.3
p.G167fs
c.499_500fs
1 paper
NM_000074.3
p.V163F
c.487G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."