Varaico: Literature-Extracted Genetic Variants

Gene:NUMB
Variant:p.E51V

NUMB

79 papers

RefSeq Summary

The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a me...

Pfam Domains

PIDaa 39–172UCSCPhosphotyrosine interaction domain (PTB/PID)
NumbFaa 258–338UCSCNUMB domain

Gene Aliases

HGNC Name

NUMB endocytic adaptor protein

HGNC Previous Symbol

C14orf41

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001005743.2
p.E51V
c.152A>T
Surrounding Variants
1 paper
NM_001005743.2
p.E48K
c.142G>A
3 papers
NM_001005743.2
p.K70E
c.208A>G
3 papers
NM_001005743.2
p.K73E
c.217A>G
1 paper
NM_001005743.2
p.G74A
c.221G>C
1 paper
NM_001005743.2
p.G77A
c.230G>C
3 papers
NM_001005743.2
p.K78E
c.232A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."