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.G195G

c.585G>A

Surrounding Variants

5 papers

NM_000531.6

p.D196N

c.586G>A

2 papers

NM_000531.6

p.G195A

c.584G>C

1 paper

NM_000531.6

p.D196H

c.586G>C

5 papers

NM_000531.6

p.D196Y

c.586G>T

1 paper

NM_000531.6

p.D196fs

c.586_587fs

10 papers

NM_000531.6

p.D196V

c.587A>T

38 papers

NM_000531.6

p.G195R

c.583G>A

38 papers

NM_000531.6

p.G195R

c.583G>C

2 papers

NM_000531.6

p.D196delFs

c.586delG

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