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.W193*

c.579G>A

Surrounding Variants

4 papers

NM_000531.6

p.W193C

c.579G>C

4 papers

NM_000531.6

p.W193C

c.579G>T

1 paper

NM_000531.6

p.I194F

c.580A>T

7 papers

NM_000531.6

p.W193*

c.578G>A

3 papers

NM_000531.6

p.W193R

c.577T>A

3 papers

NM_000531.6

p.W193R

c.577T>C

1 paper

NM_000531.6

p.I194T

c.581T>C

1 paper

NM_000531.6

p.W193G

c.577T>G

7 papers

NM_000531.6

p.S192R

c.576C>A

7 papers

NM_000531.6

p.S192R

c.576C>G

2 papers

NM_000531.6

p.D196delFs

c.586delG

38 papers

NM_000531.6

p.G195R

c.583G>A