Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.G144fs

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.G144fs
c.430_431fs
Surrounding Variants
2 papers
NM_000074.3
p.G144R
c.430G>A
1 paper
NM_000074.3
p.G144R
c.430G>C
1 paper
NM_000074.3
p.G144*
c.430G>T
2 papers
NM_000074.3
p.K143N
c.429A>C
2 papers
NM_000074.3
p.K143N
c.429A>T
7 papers
NM_000074.3
p.G144E
c.431G>A
1 paper
NM_000074.3
p.G144V
c.431G>T
6 papers
NM_000074.3
p.K143T
c.428A>C
1 paper
NM_000074.3
p.K143R
c.428A>G
1 paper
NM_000074.3
p.G144del1
c.430_431delGGA
2 papers
NM_000074.3
p.Y146del1
c.436_438delTAC
1 paper
NM_000074.3
p.K143fs
c.427_428fs
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."