Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.K22E

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.K22E
c.64A>G
Surrounding Variants
1 paper
NM_000074.3
p.K22*
c.64A>T
1 paper
NM_000074.3
p.M21I
c.63G>T
1 paper
NM_000074.3
p.F24delFs
c.70_71delTT
1 paper
NM_000074.3
p.S20N
c.59G>A
1 paper
NM_000074.3
p.I19F
c.55A>T
1 paper
NM_000074.3
p.M25fs
c.73_74fs
1 paper
NM_000074.3
p.M25delFs
c.75delG
2 papers
NM_000074.3
p.P18S
c.52C>T
3 papers
NM_000074.3
p.Y26*
c.78T>A
1 paper
NM_000074.3
p.L17P
c.50T>C
3 papers
NM_000074.3
p.Y26*
c.78T>G
1 paper
NM_000074.3
p.G16G
c.48A>G
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