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.Y143Y

c.429T>C

Surrounding Variants

2 papers

NM_000531.6

p.Y143*

c.429T>A

1 paper

NM_000531.6

p.Y143*

c.429T>G

1 paper

NM_000531.6

p.K144E

c.430A>G

4 papers

NM_000531.6

p.K144*

c.430A>T

4 papers

NM_000531.6

p.V142E

c.425T>A

1 paper

NM_000531.6

p.V142_K153ins4

c.426_458dup33

48 papers

NM_000531.6

p.R141Q

c.422G>A

6 papers

NM_000531.6

p.R141P

c.422G>C

1 paper

NM_000531.6

p.R141L

c.422G>T

3 papers

NM_000531.6

p.S146*

c.437C>A

6 papers

NM_000531.6

p.R141G

c.421C>G

3 papers

NM_000531.6

p.S146*

c.437C>G