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.A155E

c.464C>A

Surrounding Variants

3 papers

NM_000531.6

p.A155P

c.463G>C

2 papers

NM_000531.6

p.A155S

c.463G>T

1 paper

NM_000531.6

p.S156Y

c.467C>A

6 papers

NM_000531.6

p.E154*

c.460G>T

2 papers

NM_000531.6

p.E154fs

c.460_461fs

2 papers

NM_000531.6

p.E154_I157delFs

c.461_471del11

5 papers

NM_000531.6

p.P158S

c.472C>T

7 papers

NM_000531.6

p.A152V

c.455C>T

1 paper

NM_000531.6

p.P158L

c.473C>T

1 paper

NM_000531.6

p.L151L

c.453G>T

1 paper

NM_000531.6

p.I159N

c.476T>A

11 papers

NM_000531.6

p.I159T

c.476T>C