Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.A208D

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
8 papers
NM_000074.3
p.A208D
c.623C>A
Surrounding Variants
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.A209T
c.625G>A
1 paper
NM_000074.3
p.R207K
c.620G>A
1 paper
NM_000074.3
p.R207insFs
c.621dupA
1 paper
NM_000074.3
p.R207*
c.619A>T
1 paper
NM_000074.3
p.L206H
c.617T>A
2 papers
NM_000074.3
p.L206P
c.617T>C
1 paper
NM_000074.3
p.L206V
c.616C>G
1 paper
NM_000074.3
p.L206F
c.616C>T
1 paper
NM_000074.3
p.L206fs
c.616_617fs
3 papers
NM_000074.3
p.T211N
c.632C>A
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