Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.L68_D69insFs

CD40

743 papers

RefSeq Summary

This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and i...

Pfam Domains

TNFR_c6aa 62–103UCSCTNFR/NGFR cysteine-rich region
TNFR_c6aa 146–186UCSCTNFR/NGFR cysteine-rich region

Gene Aliases

HGNC Name

CD40 molecule

HGNC Previous Symbol

TNFRSF5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001250.6
p.L68_D69insFs
c.204_205insA
Surrounding Variants
1 paper
NM_001250.6
p.E66K
c.196G>A
4 papers
NM_001250.6
p.S65T
c.194G>C
1 paper
NM_001250.6
p.W71S
c.212G>C
1 paper
NM_001250.6
p.E64E
c.192A>G
1 paper
NM_001250.6
p.N72K
c.216C>A
1 paper
NM_001250.6
p.N72N
c.216C>T
1 paper
NM_001250.6
p.G63G
c.189T>A
1 paper
NM_001250.6
p.G63S
c.187G>A
1 paper
NM_001250.6
p.G63C
c.187G>T
2 papers
NM_001250.6
p.E74A
c.221A>C
3 papers
NM_001250.6
p.C62S
c.185G>C
1 paper
NM_001250.6
p.C62insFs
c.185_186insA
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