Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.Y146del1

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.Y146del1
c.436_438delTAC
Surrounding Variants
7 papers
NM_000074.3
p.G144E
c.431G>A
1 paper
NM_000074.3
p.G144V
c.431G>T
2 papers
NM_000074.3
p.Y145D
c.433T>G
1 paper
NM_000074.3
p.Y145F
c.434A>T
2 papers
NM_000074.3
p.Y145delFs
c.435delC
2 papers
NM_000074.3
p.G144R
c.430G>A
1 paper
NM_000074.3
p.G144R
c.430G>C
1 paper
NM_000074.3
p.G144*
c.430G>T
1 paper
NM_000074.3
p.G144fs
c.430_431fs
2 papers
NM_000074.3
p.K143N
c.429A>C
2 papers
NM_000074.3
p.K143N
c.429A>T
1 paper
NM_000074.3
p.Y145*
c.435C>A
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