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

3 papers

NM_000531.6

p.G105V

c.314G>T

Surrounding Variants

2 papers

NM_000531.6

p.G105E

c.314G>A

1 paper

NM_000531.6

p.G105*

c.313G>T

4 papers

NM_000531.6

p.G106R

c.316G>A

4 papers

NM_000531.6

p.G106R

c.316G>C

5 papers

NM_000531.6

p.G106E

c.317G>A

4 papers

NM_000531.6

p.G106V

c.317G>T

1 paper

NM_000531.6

p.H107N

c.319C>A

1 paper

NM_000531.6

p.H107Y

c.319C>T

2 papers

NM_000531.6

p.H107R

c.320A>G

1 paper

NM_000531.6

p.P108A

c.322C>G

8 papers

NM_000531.6

p.A102E

c.305C>A

4 papers

NM_000531.6

p.A102P

c.304G>C