Varaico: Literature-Extracted Genetic Variants

Gene:NUMB
Variant:p.P267S

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.P267S
c.799C>T
Surrounding Variants
1 paper
NM_001005743.2
p.P267A
c.799C>G
1 paper
NM_001005743.2
p.Q274R
c.821A>G
1 paper
NM_001005743.2
p.P281S
c.841C>T
1 paper
NM_001005743.2
p.A249T
c.745G>A
1 paper
NM_001005743.2
p.Q285R
c.854A>G
1 paper
NM_001005743.2
p.M287I
c.861G>T
1 paper
NM_001005743.2
p.M287I
c.861G>C
1 paper
NM_001005743.2
p.R292H
c.875G>A
1 paper
NM_001005743.2
p.L294P
c.881T>C
1 paper
NM_001005743.2
p.K308N
c.924G>T
1 paper
NM_001005743.2
p.K308N
c.924G>C
1 paper
NM_001005743.2
p.D310V
c.929A>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."