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

27 papers

NM_000531.6

p.P225L

c.674C>T

Surrounding Variants

2 papers

NM_000531.6

p.P225Q

c.674C>A

4 papers

NM_000531.6

p.P225R

c.674C>G

10 papers

NM_000531.6

p.P225T

c.673C>A

1 paper

NM_000531.6

p.E224V

c.671A>T

2 papers

NM_000531.6

p.E224*

c.670G>T

3 papers

NM_000531.6

p.G222fs

c.664_665fs

1 paper

NM_000531.6

p.G222_Y223delins

c.664_667delinsA

3 papers

NM_000531.6

p.G222_Y223Fs

c.664_667delinsACFs

4 papers

NM_000531.6

p.K221_G222Splc

c.664-1G>A

2 papers

NM_000531.6

p.K221_G222Splc

c.664-1G>C

2 papers

NM_000531.6

p.A233delFs

c.697delG

1 paper

NM_000531.6

p.A233fs

c.697_698fs