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.I172_D175delFs

c.516_525del10

Surrounding Variants

1 paper

NM_000531.6

p.Q171insFs

c.512_513ins4

1 paper

NM_000531.6

p.Q171R

c.512A>G

2 papers

NM_000531.6

p.Q171E

c.511C>G

1 paper

NM_000531.6

p.Q171*

c.511C>T

2 papers

NM_000531.6

p.Q171H

c.513G>C

2 papers

NM_000531.6

p.Q171H

c.513G>T

8 papers

NM_000531.6

p.I172F

c.514A>T

3 papers

NM_000531.6

p.I172N

c.515T>A

1 paper

NM_000531.6

p.Q171insFs

c.511dupC

1 paper

NM_000531.6

p.L173delFs

c.517delC

17 papers

NM_000531.6

p.I172M

c.516C>G

1 paper

NM_000531.6

p.L173fs

c.517_518fs