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

7 papers

NM_000531.6

p.A152V

c.455C>T

Surrounding Variants

1 paper

NM_000531.6

p.L151L

c.453G>T

4 papers

NM_000531.6

p.L151R

c.452T>G

1 paper

NM_000531.6

p.L151fs

c.451_452fs

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

1 paper

NM_000531.6

p.T150delins

c.448_449delinsCC

2 papers

NM_000531.6

p.L151delFs

c.451delC

1 paper

NM_000531.6

p.D149E

c.447C>G

3 papers

NM_000531.6

p.A155P

c.463G>C

2 papers

NM_000531.6

p.A155S

c.463G>T

2 papers

NM_000531.6

p.A155E

c.464C>A