VARS1

Chr 6

valyl-tRNA synthetase 1

Also known as: G7A, NDMSCA, VARS, VARS2

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-tRNA synthetases are thought to be among the first proteins that appeared in evolution. The protein encoded by this gene belongs to class-I aminoacyl-tRNA synthetase family and is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with microcephaly, seizures, and cortical atrophy

Clinical highlights

Gene-disease validity (ClinGen)
neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
6
Pubs (1 yr)
P/LP submissions
P/LP missense
0.51
LOEUF
GOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.51LOEUF
pLI 0.000
Z-score 4.98
OE 0.37 (0.270.51)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.68Z-score
OE missense 0.73 (0.680.78)
577 obs / 789.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.37 (0.270.51)
00.351.4
Missense OE?0.73 (0.680.78)
00.61.4
Synonymous OE?0.86
01.21.6
LoF obs/exp: 27 / 72.9Missense obs/exp: 577 / 789.3Syn Z: 1.99

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

VARS1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →