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.A233fs

c.697_698fs

Surrounding Variants

2 papers

NM_000531.6

p.A233V

c.698C>T

2 papers

NM_000531.6

p.A233delFs

c.697delG

1 paper

NM_000531.6

p.E234*

c.700G>T

4 papers

NM_000531.6

p.Q235*

c.703C>T

3 papers

NM_000531.6

p.Q235P

c.704A>C

3 papers

NM_000531.6

p.A237D

c.710C>A

1 paper

NM_000531.6

p.E239Q

c.715G>C

1 paper

NM_000531.6

p.E239A

c.716A>C

2 papers

NM_000531.6

p.E239G

c.716A>G

1 paper

NM_000531.6

p.E239V

c.716A>T

6 papers

NM_000531.6

p.E239E

c.717G>A

2 papers

NM_000531.6

p.E239D

c.717G>C