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.Q216fs

c.646_647fs

Surrounding Variants

6 papers

NM_000531.6

p.Q216E

c.646C>G

1 paper

NM_000531.6

p.L215insFs

c.645dupT

5 papers

NM_000531.6

p.L215F

c.643C>T

2 papers

NM_000531.6

p.A217E

c.650C>A

1 paper

NM_000531.6

p.H214insFs

c.641_642insC

9 papers

NM_000531.6

p.H214Y

c.640C>T

2 papers

NM_000531.6

p.A218T

c.652G>A

1 paper

NM_000531.6

p.A218P

c.652G>C

2 papers

NM_000531.6

p.A218V

c.653C>T

4 papers

NM_000531.6

p.M213K

c.638T>A

4 papers

NM_000531.6

p.M213T

c.638T>C

1 paper

NM_000531.6

p.M213R

c.638T>G