Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.S149delFs

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.S149delFs
c.446delG
Surrounding Variants
1 paper
NM_000074.3
p.M148_N150Fs
c.444_448delinsCFs
2 papers
NM_000074.3
p.M148T
c.443T>C
2 papers
NM_000074.3
p.N150D
c.448A>G
2 papers
NM_000074.3
p.T147T
c.441C>A
1 paper
NM_000074.3
p.T147T
c.441C>G
12 papers
NM_000074.3
p.T147N
c.440C>A
1 paper
NM_000074.3
p.T147A
c.439A>G
1 paper
NM_000074.3
p.Y146C
c.437A>G
1 paper
NM_000074.3
p.Y146_T147insA
c.436_440ins3
1 paper
NM_000074.3
p.Y145*
c.435C>A
1 paper
NM_000074.3
p.Y145*
c.435C>G
1 paper
NM_000074.3
p.Y145F
c.434A>T
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