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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HARS2

HARS2

140 papers

RefSeq Summary

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA syn...

Pfam Domains

tRNA-synt_Hisaa 2–320UCSCHistidyl-tRNA synthetase

HGTP_anticodonaa 341–432UCSCAnticodon binding domain

Gene Aliases

HGNC Name

histidyl-tRNA synthetase 2, mitochondrial

HGNC Previous Symbol

HARSL

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 124 variants

17 papers

chr5:140695810 C>G

NM_012208.4

p.L200V

c.598C>G

tRNA-synt_His

exact variant not in gnomAD49 overlapping SVs

16 papers

chr5:140697311 G>T

NM_012208.4

p.V368L

c.1102G>T

tRNA-synt_His

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=1, hom=0)49 overlapping SVs

15 papers

chr5:140697311 G>C

NM_012208.4

p.V368L

c.1102G>C

tRNA-synt_His

exact variant not in gnomAD49 overlapping SVs

9 papers

chr5:140697219 A>G

NM_012208.4

p.Y337C

c.1010A>G

tRNA-synt_His

Exome: 0.0% (AC=20, hom=0)Genome: n/a49 overlapping SVs

7 papers

chr5:140695556 C>T

NM_012208.4

p.R150C

c.448C>T

tRNA-synt_His

Exome: 0.0% (AC=117, hom=0)Genome: 0.0% (AC=12, hom=0)49 overlapping SVs

7 papers

chr5:140698056 G>A

NM_012208.4

p.R480H

c.1439G>A

HGTP_anticodon

Exome: 0.0% (AC=185, hom=0)Genome: 0.0% (AC=7, hom=0)48 overlapping SVs

4 papers

chr5:140693619 T>A

NM_012208.4

p.L46Q

c.137T>A

exact variant not in gnomAD50 overlapping SVs

4 papers

chr5:140693654 A>G

NM_012208.4

p.K58E

c.172A>G

Exome: 0.0% (AC=231, hom=0)Genome: 0.0% (AC=10, hom=0)50 overlapping SVs

4 papers

chr5:140694010 C>T

NM_012208.4

p.R87C

c.259C>T

tRNA-synt_His

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=2, hom=0)50 overlapping SVs

4 papers

chr5:140695521 G>A

NM_012208.4

p.R138H

c.413G>A

tRNA-synt_His

Exome: 0.0% (AC=64, hom=0)Genome: 0.0% (AC=2, hom=0)49 overlapping SVs

4 papers

chr5:140697189 G>A

NM_012208.4

p.R327Q

c.980G>A

tRNA-synt_His

Exome: 0.0% (AC=12, hom=0)Genome: n/a49 overlapping SVs

3 papers

chr5:140691720 C>A

NM_012208.4

p.C24*

c.72C>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a49 overlapping SVs

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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."