Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.K52_I53Splc

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
8 papers
NM_000074.3
p.K52_I53Splc
c.156+1G>T
Surrounding Variants
8 papers
NM_000074.3
p.K52_I53Splc
c.156+1G>A
3 papers
NM_000074.3
p.K52K
c.156G>A
3 papers
NM_000074.3
p.K52N
c.156G>C
2 papers
NM_000074.3
p.K52N
c.156G>T
3 papers
NM_000074.3
p.K52_I53Splc
c.156+2T>A
3 papers
NM_000074.3
p.K52_I53Splc
c.156+2T>C
1 paper
NM_000074.3
p.K52T
c.155A>C
1 paper
NM_000074.3
p.K52delFs
c.156delG
1 paper
NM_000074.3
p.K52E
c.154A>G
2 papers
NM_000074.3
p.K52*
c.154A>T
1 paper
NM_000074.3
p.K52_I53Splc
c.156+7T>A
1 paper
NM_000074.3
p.L50S
c.149T>C
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