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.V120fs

c.358_359fs

Surrounding Variants

1 paper

NM_000531.6

p.V120delFs

c.359_360delTG

1 paper

NM_000531.6

p.E122insFs

c.364_365insTT

1 paper

NM_000531.6

p.E122*

c.364G>T

1 paper

NM_000531.6

p.E122fs

c.364_365fs

7 papers

NM_000531.6

p.E122G

c.365A>G

2 papers

NM_000531.6

p.E122V

c.365A>T

1 paper

NM_000531.6

p.H117P

c.350A>C

5 papers

NM_000531.6

p.H117R

c.350A>G

1 paper

NM_000531.6

p.E122E

c.366A>G

8 papers

NM_000531.6

p.H117L

c.350A>T

1 paper

NM_000531.6

p.S123delFs

c.368delG

2 papers

NM_000531.6

p.H117N

c.349C>A