Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.E56K

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.E56K
c.166G>A
Surrounding Variants
1 paper
NM_001250.6
p.E56*
c.166G>T
1 paper
NM_001250.6
p.E56E
c.168A>G
1 paper
NM_001250.6
p.T55A
c.163A>G
5 papers
NM_001250.6
p.T57M
c.170C>T
1 paper
NM_001250.6
p.E53_F54delFs
c.157_160del4
1 paper
NM_001250.6
p.C51Y
c.152G>A
1 paper
NM_001250.6
p.P61S
c.181C>T
1 paper
NM_001250.6
p.D50H
c.148G>C
3 papers
NM_001250.6
p.C62S
c.184T>A
3 papers
NM_001250.6
p.C62S
c.185G>C
1 paper
NM_001250.6
p.C62insFs
c.185_186insA
1 paper
NM_001250.6
p.S49insFs
c.146_147insA
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