Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.E142K

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.E142K
c.424G>A
Surrounding Variants
1 paper
NM_000074.3
p.K143insFs
c.429dupA
2 papers
NM_000074.3
p.E142*
c.424G>T
1 paper
NM_000074.3
p.K143delFs
c.429delA
2 papers
NM_000074.3
p.E142fs
c.424_425fs
3 papers
NM_000074.3
p.E142G
c.425A>G
2 papers
NM_000074.3
p.E142_G144del0
c.425_430del6
1 paper
NM_000074.3
p.A141V
c.422C>T
1 paper
NM_000074.3
p.K143fs
c.427_428fs
2 papers
NM_000074.3
p.K143E
c.427A>G
1 paper
NM_000074.3
p.A141P
c.421G>C
1 paper
NM_000074.3
p.A141fs
c.421_422fs
4 papers
NM_000074.3
p.E142_Y146delFs
c.424_436del13
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