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.A253P

c.757G>C

Surrounding Variants

3 papers

NM_000531.6

p.A253T

c.757G>A

1 paper

NM_000531.6

p.A253delFs

c.759delA

1 paper

NM_000531.6

p.A254fs

c.760_761fs

1 paper

NM_000531.6

p.A254E

c.761C>A

1 paper

NM_000531.6

p.A254A

c.762G>C

3 papers

NM_000531.6

p.H255P

c.764A>C

1 paper

NM_000531.6

p.P250L

c.749C>T

3 papers

NM_000531.6

p.G256*

c.766G>T

5 papers

NM_000531.6

p.D249G

c.746A>G

2 papers

NM_000531.6

p.G257D

c.770G>A

2 papers

NM_000531.6

p.N258_T264del0

c.773_790del18

1 paper

NM_000531.6

p.N248delFs

c.744delT