Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.E253_H256del0

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.E253_H256del0
c.759_767del9
Surrounding Variants
1 paper
NM_001250.6
p.Q252H
c.756G>C
1 paper
NM_001250.6
p.Q252H
c.756G>T
3 papers
NM_001250.6
p.T254A
c.760A>G
1 paper
NM_001250.6
p.Q252_E253delFs
c.755_758del4
3 papers
NM_001250.6
p.T254I
c.761C>T
1 paper
NM_001250.6
p.V251V
c.753G>A
1 paper
NM_001250.6
p.L255L
c.763T>C
1 paper
NM_001250.6
p.T247N
c.740C>A
1 paper
NM_001250.6
p.P260L
c.779C>T
1 paper
NM_001250.6
p.S245F
c.734C>T
1 paper
NM_001250.6
p.T262A
c.784A>G
1 paper
NM_001250.6
p.T262T
c.786C>T
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