Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.E230fs

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.E230fs
c.688_689fs
Surrounding Variants
2 papers
NM_000074.3
p.E230*
c.688G>T
2 papers
NM_000074.3
p.F229L
c.687T>A
2 papers
NM_000074.3
p.F229L
c.687T>G
1 paper
NM_000074.3
p.E230_G234delins
c.690_702delinsCACCTGAACCCCC
1 paper
NM_000074.3
p.F229S
c.686T>C
3 papers
NM_000074.3
p.F229L
c.685T>C
9 papers
NM_000074.3
p.L231S
c.692T>C
1 paper
NM_000074.3
p.L231W
c.692T>G
5 papers
NM_000074.3
p.Q232*
c.694C>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.P233fs
c.697_698fs
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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."