Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WARS2

Variant:p.W13G

WARS2

125 papers

RefSeq Summary

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-...

Pfam Domains

tRNA-synt_1baa 30–315UCSCtRNA synthetases class I (W and Y)

Gene Aliases

HGNC Name

tryptophanyl tRNA synthetase 2, mitochondrial

HGNC Alias Symbol

mtTrpRS

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

33 papers

chr1:119140608 A>C

NM_015836.4

p.W13G

c.37T>G

Exome: 0.4% (AC=5311, hom=22)Genome: 0.3% (AC=480, hom=0)242 overlapping SVs

Surrounding Variants

1 paper

chr1:119140608 A>G

NM_015836.4

p.W13R

c.37T>C

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=3, hom=0)242 overlapping SVs

1 paper

chr1:119140608 A>T

NM_015836.4

p.W13R

c.37T>A

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=1, hom=0)242 overlapping SVs

1 paper

chr1:119140610 C>G

NM_015836.4

p.R12P

c.35G>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a242 overlapping SVs

1 paper

chr1:119140610 C>T

NM_015836.4

p.R12H

c.35G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a242 overlapping SVs

1 paper

chr1:119140611 G>C

NM_015836.4

p.R12G

c.34C>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a242 overlapping SVs

1 paper

chr1:119140625 C>T

NM_015836.4

p.R7Q

c.20G>A

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=2, hom=0)242 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."