Varaico: Literature-Extracted Genetic Variants

Gene:NUMB

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
1–12 of 66 variants
3 papers
NM_001005743.2
p.K70E
c.208A>G
3 papers
NM_001005743.2
p.K73E
c.217A>G
3 papers
NM_001005743.2
p.K78E
c.232A>G
3 papers
NM_001005743.2
p.F162V
c.484T>G
3 papers
NM_001005743.2
p.T188P
c.562A>C
2 papers
NM_001005743.2
p.T199P
c.595A>C
2 papers
NM_001005743.2
p.A388insFs
c.1162dupG
2 papers
NM_001005743.2
p.V524L
c.1570G>T
2 papers
NM_001005743.2
p.V524L
c.1570G>C
2 papers
NM_001005743.2
p.G595D
c.1784G>A
1 paper
NM_001005743.2
p.M1insFs
c.3dupG
1 paper
NM_001005743.2
p.R5W
c.13C>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."