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

11 papers

NM_000531.6

p.I159T

c.476T>C

Surrounding Variants

1 paper

NM_000531.6

p.I159N

c.476T>A

3 papers

NM_000531.6

p.I159M

c.477T>G

1 paper

NM_000531.6

p.P158L

c.473C>T

2 papers

NM_000531.6

p.I160N

c.479T>A

1 paper

NM_000531.6

p.I160T

c.479T>C

2 papers

NM_000531.6

p.I160S

c.479T>G

5 papers

NM_000531.6

p.P158S

c.472C>T

6 papers

NM_000531.6

p.N161D

c.481A>G

25 papers

NM_000531.6

p.N161S

c.482A>G

4 papers

NM_000531.6

p.N161K

c.483T>A

4 papers

NM_000531.6

p.N161K

c.483T>G

6 papers

NM_000531.6

p.G162R

c.484G>A