Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:YPEL1

YPEL1

9 papers

RefSeq Summary

This gene is located in the region associated with DiGeorge syndrome on chromosome 22. The encoded protein localizes to the centrosome and nucleolus and may play a role in the regulation of cell divis...

Pfam Domains

Yippee-Mis18aa 19–118UCSCYippee zinc-binding/DNA-binding /Mis18, centromere assembly

Gene Aliases

HGNC Name

yippee like 1

HGNC Previous Names

yippee (Drosophila) homolog-like 1; yippee-like 1 (Drosophila)

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr22:21710716 A>G

NM_013313.5

p.F10S

c.29T>C

Exome: n/aGenome: 0.0% (AC=1, hom=0)8 overlapping SVs

1 paper

chr22:21703859 G>A

NM_013313.5

p.R47R

c.141C>T

Yippee-Mis18

Exome: 0.0% (AC=78, hom=0)Genome: 0.0% (AC=9, hom=0)9 overlapping SVs

1 paper

chr22:21703381 C>T

NM_013313.5

p.G87R

c.259G>A

Yippee-Mis18

Exome: 0.0% (AC=2, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr22:21703370 G>A

NM_013313.5

p.Y90Y

c.270C>T

Yippee-Mis18

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=1, hom=0)9 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."