Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.L155P

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
16 papers
NM_000074.3
p.L155P
c.464T>C
Surrounding Variants
1 paper
NM_000074.3
p.N157delFs
c.470delA
1 paper
NM_000074.3
p.N157_Q160del4
c.469_479del12
1 paper
NM_000074.3
p.V153G
c.458T>G
2 papers
NM_000074.3
p.G158delFs
c.474delG
2 papers
NM_000074.3
p.G158_L161del4
c.472_482del12
1 paper
NM_000074.3
p.Q160_K164del0
c.478_492del15
1 paper
NM_000074.3
p.K159*
c.475A>T
1 paper
NM_000074.3
p.K159fs
c.475_476fs
1 paper
NM_000074.3
p.Q160insFs
c.478_479insA
2 papers
NM_000074.3
p.Q160*
c.478C>T
2 papers
NM_000074.3
p.N150D
c.448A>G
1 paper
NM_000074.3
p.L161_T162insG
c.481_485ins3
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