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.A137T

c.409G>A

Surrounding Variants

2 papers

NM_000531.6

p.A137P

c.409G>C

1 paper

NM_000531.6

p.D136G

c.407A>G

2 papers

NM_000531.6

p.D136V

c.407A>T

4 papers

NM_000531.6

p.A135E

c.404C>A

1 paper

NM_000531.6

p.A135T

c.403G>A

1 paper

NM_000531.6

p.A135fs

c.403_404fs

7 papers

NM_000531.6

p.L139S

c.416T>C

2 papers

NM_000531.6

p.A135delFs

c.403delG

7 papers

NM_000531.6

p.A140P

c.418G>C

1 paper

NM_000531.6

p.A140_R141insG

c.418_422ins3

1 paper

NM_000531.6

p.A140S

c.418G>T

2 papers

NM_000531.6

p.A140D

c.419C>A