Varaico: Literature-Extracted Genetic Variants

OTC

484 papers

RefSeq Summary

This nuclear gene encodes a mitochondrial matrix enzyme. The encoded protein is involved in the urea cycle which functions to detoxify ammonia into urea for excretion. Mutations in this enzyme lead to...

Pfam Domains

OTCace_Naa 40–181UCSCAspartate/ornithine carbamoyltransferase, carbamoyl-P binding domain

OTCaceaa 187–341UCSCAspartate/ornithine carbamoyltransferase, Asp/Orn binding domain

Gene Aliases

HGNC Name

ornithine transcarbamylase

HGNC Alias Symbols

OTCase; OTCD; OTC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000531.6

p.A135delFs

c.403delG

Surrounding Variants

1 paper

NM_000531.6

p.A135T

c.403G>A

1 paper

NM_000531.6

p.A135fs

c.403_404fs

4 papers

NM_000531.6

p.A135E

c.404C>A

1 paper

NM_000531.6

p.S133insFs

c.398_399ins4

1 paper

NM_000531.6

p.S133fs

c.397_398fs

1 paper

NM_000531.6

p.D136G

c.407A>G

2 papers

NM_000531.6

p.D136V

c.407A>T

2 papers

NM_000531.6

p.S132F

c.395C>T

4 papers

NM_000531.6

p.S132P

c.394T>C

2 papers

NM_000531.6

p.A137T

c.409G>A

2 papers

NM_000531.6

p.A137P

c.409G>C

1 paper

NM_000531.6

p.L131_S132ins1

c.393_394insTTA