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.H168P

c.503A>C

Surrounding Variants

2 papers

NM_000531.6

p.H168R

c.503A>G

7 papers

NM_000531.6

p.H168Q

c.504T>A

7 papers

NM_000531.6

p.H168Q

c.504T>G

11 papers

NM_000531.6

p.Y167*

c.501C>A

11 papers

NM_000531.6

p.Y167*

c.501C>G

3 papers

NM_000531.6

p.P169A

c.505C>G

2 papers

NM_000531.6

p.P169S

c.505C>T

1 paper

NM_000531.6

p.Y167F

c.500A>T

2 papers

NM_000531.6

p.P169H

c.506C>A

4 papers

NM_000531.6

p.P169L

c.506C>T

1 paper

NM_000531.6

p.Q171insFs

c.511dupC

2 papers

NM_000531.6

p.Q171E

c.511C>G