Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.T242T

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
5 papers
NM_000074.3
p.T242T
c.726T>C
Surrounding Variants
1 paper
NM_000074.3
p.T242S
c.725C>G
1 paper
NM_000074.3
p.T242I
c.725C>T
2 papers
NM_000074.3
p.T242_D243insT
c.724_728ins3
1 paper
NM_000074.3
p.D243A
c.728A>C
1 paper
NM_000074.3
p.T242S
c.724A>T
1 paper
NM_000074.3
p.D243V
c.728A>T
3 papers
NM_000074.3
p.N240delFs
c.719_720delAT
1 paper
NM_000074.3
p.N240fs
c.718_719fs
1 paper
NM_000074.3
p.N240del1
c.718_719delAAT
1 paper
NM_000074.3
p.Q246_V247delFs
c.736_740del5
1 paper
NM_000074.3
p.Q246fs
c.736_737fs
2 papers
NM_000074.3
p.F238S
c.713T>C
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