Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.E182insFs

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.E182insFs
c.544_545insT
Surrounding Variants
1 paper
NM_000074.3
p.E182*
c.544G>T
3 papers
NM_000074.3
p.R181Q
c.542G>A
2 papers
NM_000074.3
p.R181P
c.542G>C
1 paper
NM_000074.3
p.R181W
c.541C>T
1 paper
NM_000074.3
p.S184*
c.551C>A
1 paper
NM_000074.3
p.N180insFs
c.539_540insA
2 papers
NM_000074.3
p.N180delFs
c.539delA
7 papers
NM_000074.3
p.Q186*
c.556C>T
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.A187T
c.559G>A
1 paper
NM_000074.3
p.A187fs
c.559_560fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."