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

1 paper

NM_000531.6

p.G212R

c.634G>C

Surrounding Variants

1 paper

NM_000531.6

p.G212R

c.634G>A

1 paper

NM_000531.6

p.G212*

c.634G>T

2 papers

NM_000531.6

p.G212V

c.635G>T

1 paper

NM_000531.6

p.M213L

c.637A>C

1 paper

NM_000531.6

p.M213L

c.637A>T

2 papers

NM_000531.6

p.K210N

c.630A>C

1 paper

NM_000531.6

p.K210N

c.630A>T

4 papers

NM_000531.6

p.M213K

c.638T>A

4 papers

NM_000531.6

p.M213T

c.638T>C

1 paper

NM_000531.6

p.M213R

c.638T>G

6 papers

NM_000531.6

p.K210Q

c.628A>C

2 papers

NM_000531.6

p.K210E

c.628A>G