Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GET1

Variant:p.I159V

GET1

17 papers

RefSeq Summary

This gene is located in the candidate region for congenital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a receptor that promotes insertion of tail-anchored ...

Pfam Domains

CHD5aa 12–163UCSCCHD5-like protein

Gene Aliases

HGNC Name

guided entry of tail-anchored proteins factor 1

HGNC Previous Symbol

WRB

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr21:39396889 A>G

NM_004627.6

p.I159V

c.475A>G

CHD5

exact variant not in gnomAD6 overlapping SVs

Surrounding Variants

1 paper

chr21:39396905 A>G

NM_004627.6

p.K164R

c.491A>G

Exome: n/aGenome: 0.0% (AC=1, hom=0)6 overlapping SVs

1 paper

chr21:39396915 T>C

NM_004627.6

p.A167A

c.501T>C

Exome: 0.6% (AC=9056, hom=41)Genome: 0.4% (AC=600, hom=2)6 overlapping SVs

1 paper

chr21:39393251 G>A

NM_004627.6

p.R141H

c.422G>A

CHD5

Exome: 0.0% (AC=58, hom=0)Genome: 0.0% (AC=26, hom=0)6 overlapping SVs

1 paper

chr21:39393228 T>C

NM_004627.6

p.S133S

c.399T>C

CHD5

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr21:39391835 A>G

NM_004627.6

p.Q112R

c.335A>G

CHD5 SH3BGR

exact variant not in gnomAD6 overlapping SVs

1 paper

chr21:39391828 G>A

NM_004627.6

p.V110I

c.328G>A

CHD5 SH3BGR

Exome: 0.2% (AC=2437, hom=65)Genome: 1.7% (AC=2553, hom=72)6 overlapping SVs

1 paper

chr21:39390715 G>T

NM_004627.6

p.Q40H

c.120G>T

CHD5

exact variant not in gnomAD6 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."