Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.E74A

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.E74A
c.221A>C
Surrounding Variants
1 paper
NM_001250.6
p.T75A
c.223A>G
1 paper
NM_001250.6
p.T75I
c.224C>T
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.C77G
c.229T>G
1 paper
NM_001250.6
p.W71S
c.212G>C
1 paper
NM_001250.6
p.H78Q
c.234C>A
1 paper
NM_001250.6
p.H78Q
c.234C>G
2 papers
NM_001250.6
p.L68_D69insFs
c.204_205insA
1 paper
NM_001250.6
p.K81_Y82insFs
c.243_244insT
1 paper
NM_001250.6
p.E66K
c.196G>A
6 papers
NM_001250.6
p.C83R
c.247T>C
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