Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.S192_L193insFs

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.S192_L193insFs
c.574_577dup4
Surrounding Variants
1 paper
NM_000074.3
p.A191P
c.571G>C
1 paper
NM_000074.3
p.A191D
c.572C>A
1 paper
NM_000074.3
p.S192S
c.576C>T
1 paper
NM_000074.3
p.L193fs
c.577_578fs
2 papers
NM_000074.3
p.L193P
c.578T>C
1 paper
NM_000074.3
p.A187T
c.559G>A
1 paper
NM_000074.3
p.A187fs
c.559_560fs
1 paper
NM_000074.3
p.A187fs
c.559_560fs
1 paper
NM_000074.3
p.A187delFs
c.559delG
1 paper
NM_000074.3
p.A187_K196del10
c.559_587del30
1 paper
NM_000074.3
p.C194fs
c.580_581fs
7 papers
NM_000074.3
p.Q186*
c.556C>T
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