Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.M36R

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
12 papers
NM_000074.3
p.M36R
c.107T>G
Surrounding Variants
1 paper
NM_000074.3
p.M36K
c.107T>A
1 paper
NM_000074.3
p.M36T
c.107T>C
1 paper
NM_000074.3
p.M36L
c.106A>T
1 paper
NM_000074.3
p.M36I
c.108G>A
1 paper
NM_000074.3
p.M36I
c.108G>C
1 paper
NM_000074.3
p.M36I
c.108G>T
1 paper
NM_000074.3
p.I37N
c.110T>A
2 papers
NM_000074.3
p.Q35*
c.103C>T
1 paper
NM_000074.3
p.Q35fs
c.103_104fs
1 paper
NM_000074.3
p.G38delFs
c.114delG
8 papers
NM_000074.3
p.G38R
c.112G>A
8 papers
NM_000074.3
p.G38R
c.112G>C
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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."