Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POTEJ

Variant:p.T417S

POTEJ

2q21.1 (UCSC)GTEx

60 papers

Pfam Domains

Ank_2aa 106–199UCSCAnkyrin repeats (3 copies)

Ank_2aa 206–298UCSCAnkyrin repeats (3 copies)

Ank_2aa 267–331UCSCAnkyrin repeats (3 copies)

CCDC144Caa 548–671UCSCCCDC144C protein coiled-coil region

Actinaa 665–1038UCSCActin

Gene Aliases

HGNC Name

POTE ankyrin domain family member J

HGNC Alias Symbol

POTE2beta

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr2:130632607 A>T

NM_001277083.2

p.T417S

c.1249A>T

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=5, hom=0)139 overlapping SVs

Surrounding Variants

chr2:130632548 G>C

NM_001277083.2

p.S397T

c.1190G>C

Exome: 5.5% (AC=42190, hom=2481)Genome: 10.5% (AC=9185, hom=164)139 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."