Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.T4A

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.T4A
c.10A>G
Surrounding Variants
1 paper
NM_000074.3
p.T4R
c.11C>G
1 paper
NM_000074.3
p.T4I
c.11C>T
2 papers
NM_000074.3
p.T4T
c.12A>G
3 papers
NM_000074.3
p.E3K
c.7G>A
1 paper
NM_000074.3
p.Y5H
c.13T>C
2 papers
NM_000074.3
p.Y5*
c.15C>A
2 papers
NM_000074.3
p.Y5*
c.15C>G
1 paper
NM_000074.3
p.I2N
c.5T>A
1 paper
NM_000074.3
p.I2insFs
c.5_6ins4
1 paper
NM_000074.3
p.N6fs
c.16_17fs
3 papers
NM_000074.3
p.M1I
c.3G>A
1 paper
NM_000074.3
p.M1I
c.3G>C
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."