Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.V247V

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.V247V
c.741G>A
Surrounding Variants
1 paper
NM_000074.3
p.H249Y
c.745C>T
1 paper
NM_000074.3
p.H249insFs
c.747dupT
1 paper
NM_000074.3
p.Q246fs
c.736_737fs
1 paper
NM_000074.3
p.Q246_V247delFs
c.736_740del5
1 paper
NM_000074.3
p.G250D
c.749G>A
1 paper
NM_000074.3
p.G250A
c.749G>C
1 paper
NM_000074.3
p.D243A
c.728A>C
1 paper
NM_000074.3
p.D243V
c.728A>T
1 paper
NM_000074.3
p.G252D
c.755G>A
1 paper
NM_000074.3
p.F253_F256del0
c.759_767del9
5 papers
NM_000074.3
p.T242T
c.726T>C
1 paper
NM_000074.3
p.T242S
c.725C>G
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