Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.S197fs

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.S197fs
c.589_590fs
Surrounding Variants
1 paper
NM_000074.3
p.S197delFs
c.591delC
2 papers
NM_000074.3
p.S197Y
c.590C>A
1 paper
NM_000074.3
p.S197F
c.590C>T
1 paper
NM_000074.3
p.K196N
c.588G>C
1 paper
NM_000074.3
p.K196fs
c.586_587fs
1 paper
NM_000074.3
p.P198S
c.592C>T
6 papers
NM_000074.3
p.L195P
c.584T>C
1 paper
NM_000074.3
p.L195insFs
c.585dupA
1 paper
NM_000074.3
p.L195fs
c.583_584fs
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
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