Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAST3

Variant:p.L50L

MAST3

19p13.11 (UCSC)OMIM PanelApp GTEx

41 papers

Pfam Domains

DUF1908aa 80–353UCSCDomain of unknown function (DUF1908)

Pkinaseaa 389–662UCSCProtein kinase domain

PDZ_6aa 1004–1055UCSCPDZ domain

Gene Aliases

HGNC Name

microtubule associated serine/threonine kinase 3

HGNC Alias Symbol

KIAA0561

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr19:18110730 G>A

NM_001393504.1

p.L50L

c.150G>A

Exome: 0.0% (AC=4, hom=0)Genome: n/a10 overlapping SVs

Surrounding Variants

chr19:18107609 G>A

NM_001393504.1

p.R21Q

c.62G>A

Exome: 0.0% (AC=12, hom=0)Genome: n/a10 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."