Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.T211N

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
3 papers
NM_000074.3
p.T211N
c.632C>A
Surrounding Variants
1 paper
NM_000074.3
p.S213del1
c.637_638delAGT
1 paper
NM_000074.3
p.A209T
c.625G>A
1 paper
NM_000074.3
p.S214fs
c.640_641fs
1 paper
NM_000074.3
p.S214delFs
c.642delC
8 papers
NM_000074.3
p.A208D
c.623C>A
1 paper
NM_000074.3
p.A208P
c.622G>C
1 paper
NM_000074.3
p.A208fs
c.622_623fs
1 paper
NM_000074.3
p.A215fs
c.643_644fs
1 paper
NM_000074.3
p.A215D
c.644C>A
1 paper
NM_000074.3
p.A215G
c.644C>G
1 paper
NM_000074.3
p.A215V
c.644C>T
1 paper
NM_000074.3
p.R207K
c.620G>A
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."