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

1 paper

NM_000531.6

p.Q282E

c.844C>G

Surrounding Variants

1 paper

NM_000531.6

p.Q282*

c.844C>T

1 paper

NM_000531.6

p.Q282Q

c.846A>G

5 papers

NM_000531.6

p.F281S

c.842T>C

1 paper

NM_000531.6

p.G283V

c.848G>T

1 paper

NM_000531.6

p.A280V

c.839C>T

2 papers

NM_000531.6

p.A280T

c.838G>A

2 papers

NM_000531.6

p.Y284N

c.850T>A

2 papers

NM_000531.6

p.Y284_Q285delFs

c.851_854del4

5 papers

NM_000531.6

p.Q285delFs

c.853delC

1 paper

NM_000531.6

p.Q279Q

c.837G>A

1 paper

NM_000531.6

p.Y284*

c.852C>A

1 paper

NM_000531.6

p.Y284*

c.852C>G