Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.L193P

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
2 papers
NM_000074.3
p.L193P
c.578T>C
Surrounding Variants
1 paper
NM_000074.3
p.L193fs
c.577_578fs
1 paper
NM_000074.3
p.S192S
c.576C>T
1 paper
NM_000074.3
p.C194fs
c.580_581fs
1 paper
NM_000074.3
p.L195fs
c.583_584fs
1 paper
NM_000074.3
p.A191D
c.572C>A
6 papers
NM_000074.3
p.L195P
c.584T>C
1 paper
NM_000074.3
p.L195insFs
c.585dupA
1 paper
NM_000074.3
p.A191P
c.571G>C
1 paper
NM_000074.3
p.K196fs
c.586_587fs
1 paper
NM_000074.3
p.S192_L193insFs
c.574_577dup4
1 paper
NM_000074.3
p.K196N
c.588G>C
1 paper
NM_000074.3
p.S197delFs
c.591delC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."