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.T287P

c.859A>C

Surrounding Variants

5 papers

NM_000531.6

p.T287I

c.860C>T

1 paper

NM_000531.6

p.T287_M288insFs

c.861_862insAC

1 paper

NM_000531.6

p.M288V

c.862A>G

1 paper

NM_000531.6

p.M288fs

c.862_863fs

1 paper

NM_000531.6

p.Q285Q

c.855G>A

1 paper

NM_000531.6

p.K289del1

c.865_866delAAG

2 papers

NM_000531.6

p.Q285*

c.853C>T

1 paper

NM_000531.6

p.Q285fs

c.853_854fs

1 paper

NM_000531.6

p.V286_K289del0

c.856_867del12

1 paper

NM_000531.6

p.Y284*

c.852C>A

1 paper

NM_000531.6

p.Y284*

c.852C>G

5 papers

NM_000531.6

p.Q285delFs

c.853delC