Varaico: Literature-Extracted Genetic Variants

Gene:CD40
Variant:p.V2I

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.V2I
c.4G>A
Surrounding Variants
4 papers
NM_001250.6
p.M1I
c.3G>A
1 paper
NM_001250.6
p.V2ins0
c.4_6dupGTT
1 paper
NM_001250.6
p.V2G
c.5T>G
1 paper
NM_001250.6
p.M1K
c.2T>A
2 papers
NM_001250.6
p.M1T
c.2T>C
1 paper
NM_001250.6
p.P5L
c.14C>T
1 paper
NM_001250.6
p.P5P
c.15T>A
1 paper
NM_001250.6
p.L6L
c.16C>T
1 paper
NM_001250.6
p.L6L
c.18G>C
1 paper
NM_001250.6
p.C8G
c.22T>G
1 paper
NM_001250.6
p.C8C
c.24C>T
1 paper
NM_001250.6
p.L10F
c.28C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."