Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.V163delFs

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.V163delFs
c.488delT
Surrounding Variants
1 paper
NM_000074.3
p.V163F
c.487G>T
1 paper
NM_000074.3
p.R165_Q166delFs
c.494_498del5
1 paper
NM_000074.3
p.T162insFs
c.484_485insAA
1 paper
NM_000074.3
p.R165insFs
c.493_494dupAG
1 paper
NM_000074.3
p.L161Q
c.482T>A
2 papers
NM_000074.3
p.L161P
c.482T>C
3 papers
NM_000074.3
p.L161R
c.482T>G
1 paper
NM_000074.3
p.R165*
c.493A>T
3 papers
NM_000074.3
p.R165fs
c.493_494fs
1 paper
NM_000074.3
p.L161_T162insG
c.481_485ins3
1 paper
NM_000074.3
p.R165S
c.495A>C
2 papers
NM_000074.3
p.Q166K
c.496C>A
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