Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.E202A

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.E202A
c.605A>C
Surrounding Variants
3 papers
NM_000074.3
p.E202*
c.604G>T
1 paper
NM_000074.3
p.R203R
c.607A>C
1 paper
NM_000074.3
p.R203K
c.608G>A
3 papers
NM_000074.3
p.R203T
c.608G>C
6 papers
NM_000074.3
p.R203I
c.608G>T
1 paper
NM_000074.3
p.R200S
c.600A>C
1 paper
NM_000074.3
p.R200S
c.600A>T
6 papers
NM_000074.3
p.R200*
c.598A>T
1 paper
NM_000074.3
p.R200delFs
c.599delG
1 paper
NM_000074.3
p.R200fs
c.598_599fs
1 paper
NM_000074.3
p.I204_H212delins
c.612_635delinsAATTGAGTCTTAGAAAAGTTAAGC
1 paper
NM_000074.3
p.L205S
c.614T>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."