Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NUMB

Variant:p.T27K

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr14:73355672 G>T

NM_001005743.2

p.T27K

c.80C>A

Exome: 0.0% (AC=80, hom=0)Genome: 0.0% (AC=2, hom=0)13 overlapping SVs

Surrounding Variants

1 paper

chr14:73355678 C>T

NM_001005743.2

p.W25*

c.74G>A

exact variant not in gnomAD13 overlapping SVs

1 paper

chr14:73355657 A>G

NM_001005743.2

p.V32A

c.95T>C

exact variant not in gnomAD13 overlapping SVs

1 paper

chr14:73355704 A>C

NM_001005743.2

p.V16V

c.48T>G

exact variant not in gnomAD13 overlapping SVs

1 paper

chr14:73355708 T>A

NM_001005743.2

p.Y15F

c.44A>T

exact variant not in gnomAD13 overlapping SVs

1 paper

chr14:73355739 G>A

NM_001005743.2

p.R5W

c.13C>T

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=3, hom=0)13 overlapping SVs

1 paper

chr14:73355748 T>TC

NM_001005743.2

p.M1insFs

c.3dupG

exact variant not in gnomAD13 overlapping SVs

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."