Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.L225S

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.L225S
c.674T>C
Surrounding Variants
1 paper
NM_000074.3
p.G227del1
c.679_680delGGA
3 papers
NM_000074.3
p.G226R
c.676G>A
3 papers
NM_000074.3
p.G226R
c.676G>C
1 paper
NM_000074.3
p.G226fs
c.676_677fs
4 papers
NM_000074.3
p.G226A
c.677G>C
1 paper
NM_000074.3
p.G226delFs
c.678delA
4 papers
NM_000074.3
p.H224Y
c.670C>T
2 papers
NM_000074.3
p.G227*
c.679G>T
1 paper
NM_000074.3
p.G227E
c.680G>A
11 papers
NM_000074.3
p.G227V
c.680G>T
1 paper
NM_000074.3
p.I223N
c.668T>A
1 paper
NM_000074.3
p.S222Y
c.665C>A
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."