Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC66A2

Variant:p.V150V

SLC66A2

18q23 (UCSC)GTEx

17 papers

Pfam Domains

PQ-loopaa 17–77UCSCPQ loop repeat

PQ-loopaa 170–230UCSCPQ loop repeat

Gene Aliases

HGNC Name

solute carrier family 66 member 2

HGNC Previous Symbol

PQLC1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr18:79919342 G>A

NM_025078.5

p.V150V

c.450C>T

Exome: 0.0% (AC=48, hom=0)Genome: 0.0% (AC=22, hom=0)17 overlapping SVs

Surrounding Variants

chr18:79919290 C>T

NM_025078.5

p.A168T

c.502G>A

Exome: 0.0% (AC=422, hom=3)Genome: 0.0% (AC=64, hom=1)16 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."