Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.S128R

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
10 papers
NM_000074.3
p.S128R
c.382A>C
Surrounding Variants
1 paper
NM_000074.3
p.S128insFs
c.383dupG
1 paper
NM_000074.3
p.S128fs
c.382_383fs
1 paper
NM_000074.3
p.S128fs
c.382_383fs
10 papers
NM_000074.3
p.S128R
c.384T>A
10 papers
NM_000074.3
p.S128R
c.384T>G
1 paper
NM_000074.3
p.I127insFs
c.380dupT
2 papers
NM_000074.3
p.I127V
c.379A>G
2 papers
NM_000074.3
p.E129*
c.385G>T
1 paper
NM_000074.3
p.E129A
c.386A>C
11 papers
NM_000074.3
p.E129G
c.386A>G
1 paper
NM_000074.3
p.E129V
c.386A>T
5 papers
NM_000074.3
p.V126D
c.377T>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."