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

6 papers

NM_000531.6

p.L45P

c.134T>C

Surrounding Variants

2 papers

NM_000531.6

p.N47insFs

c.140dupA

6 papers

NM_000531.6

p.N47delFs

c.140delA

6 papers

NM_000531.6

p.L45V

c.133C>G

20 papers

NM_000531.6

p.K46R

c.137A>G

1 paper

NM_000531.6

p.K46I

c.137A>T

1 paper

NM_000531.6

p.T44ins1

c.131_132insTTA

7 papers

NM_000531.6

p.T44I

c.131C>T

1 paper

NM_000531.6

p.N47D

c.139A>G

6 papers

NM_000531.6

p.N47fs

c.139_140fs

1 paper

NM_000531.6

p.T44_T49del0

c.132_146del15

1 paper

NM_000531.6

p.N47insFs

c.140_141insG

2 papers

NM_000531.6

p.N47T

c.140A>C