Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.P227A

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
9 papers
NM_001250.6
p.P227A
c.679C>G
Surrounding Variants
1 paper
NM_001250.6
p.K230N
c.690G>C
1 paper
NM_001250.6
p.K230N
c.690G>T
1 paper
NM_001250.6
p.K230_Q234delins
c.690_702delinsCACCTGAACCCCC
1 paper
NM_001250.6
p.Q231*
c.691C>T
1 paper
NM_001250.6
p.Q231Q
c.693G>A
1 paper
NM_001250.6
p.E232Q
c.694G>C
1 paper
NM_001250.6
p.P233fs
c.697_698fs
1 paper
NM_001250.6
p.Q234ins7
c.700_701ins21
1 paper
NM_001250.6
p.E235A
c.704A>C
1 paper
NM_001250.6
p.E235D
c.705G>T
1 paper
NM_001250.6
p.I236T
c.707T>C
2 papers
NM_001250.6
p.N237D
c.709A>G
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