Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.A43_H47Fs

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.A43_H47Fs
c.129_140delinsGTFs
Surrounding Variants
1 paper
NM_000074.3
p.V44E
c.131T>A
3 papers
NM_000074.3
p.Y45*
c.135T>A
2 papers
NM_000074.3
p.H47Y
c.139C>T
2 papers
NM_000074.3
p.A40delFs
c.120delA
1 paper
NM_000074.3
p.A40fs
c.118_119fs
1 paper
NM_000074.3
p.S39S
c.117A>C
1 paper
NM_000074.3
p.R48*
c.142A>T
2 papers
NM_000074.3
p.S39L
c.116C>T
1 paper
NM_000074.3
p.R48K
c.143G>A
3 papers
NM_000074.3
p.L41ins2
c.121_122ins6
1 paper
NM_000074.3
p.R49delFs
c.147delG
8 papers
NM_000074.3
p.G38R
c.112G>A
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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."