Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.V148A

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
1 paper
NM_001250.6
p.V148A
c.443T>C
Surrounding Variants
1 paper
NM_001250.6
p.G149S
c.445G>A
1 paper
NM_001250.6
p.F151_S152del1
c.452_454delTCT
1 paper
NM_001250.6
p.C146_P147insA
c.436_440ins3
1 paper
NM_001250.6
p.F151S
c.452T>C
1 paper
NM_001250.6
p.S152S
c.456C>T
2 papers
NM_001250.6
p.E144K
c.430G>A
1 paper
NM_001250.6
p.C143C
c.429C>T
1 paper
NM_001250.6
p.N153S
c.458A>G
1 paper
NM_001250.6
p.C143S
c.427T>A
1 paper
NM_001250.6
p.I142T
c.425T>C
1 paper
NM_001250.6
p.I142_E144del0
c.425_430del6
1 paper
NM_001250.6
p.I142_C146delFs
c.424_436del13
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