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

2 papers

NM_000531.6

p.N198I

c.593A>T

Surrounding Variants

1 paper

NM_000531.6

p.N198S

c.593A>G

4 papers

NM_000531.6

p.N198K

c.594C>A

4 papers

NM_000531.6

p.N198K

c.594C>G

3 papers

NM_000531.6

p.N199H

c.595A>C

5 papers

NM_000531.6

p.N199D

c.595A>G

1 paper

NM_000531.6

p.N199_I200delFs

c.597_598delTA

1 paper

NM_000531.6

p.N198_M205delFs

c.592_613del22

4 papers

NM_000531.6

p.N199S

c.596A>G

8 papers

NM_000531.6

p.G197E

c.590G>A

8 papers

NM_000531.6

p.G197R

c.589G>A

8 papers

NM_000531.6

p.G197R

c.589G>C

2 papers

NM_000531.6

p.G197W

c.589G>T