Varaico: Literature-Extracted Genetic Variants

Gene:NUMB
Variant:p.A388fs

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.A388fs
c.1162_1163fs
Surrounding Variants
2 papers
NM_001005743.2
p.A388insFs
c.1162dupG
1 paper
NM_001005743.2
p.K378Q
c.1132A>C
1 paper
NM_001005743.2
p.A400V
c.1199C>T
1 paper
NM_001005743.2
p.N367H
c.1099A>C
1 paper
NM_001005743.2
p.G422D
c.1265G>A
1 paper
NM_001005743.2
p.A486G
c.1457C>G
1 paper
NM_001005743.2
p.A504V
c.1511C>T
2 papers
NM_001005743.2
p.V524L
c.1570G>T
2 papers
NM_001005743.2
p.V524L
c.1570G>C
1 paper
NM_001005743.2
p.I529V
c.1585A>G
1 paper
NM_001005743.2
p.V538I
c.1612G>A
1 paper
NM_001005743.2
p.S573R
c.1717A>C
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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."