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.A209T

c.625G>A

Surrounding Variants

4 papers

NM_000531.6

p.A209E

c.626C>A

3 papers

NM_000531.6

p.A209G

c.626C>G

28 papers

NM_000531.6

p.A209V

c.626C>T

1 paper

NM_000531.6

p.A209_K210del2

c.625_629del6

2 papers

NM_000531.6

p.K210delFs

c.630delA

6 papers

NM_000531.6

p.K210Q

c.628A>C

2 papers

NM_000531.6

p.K210E

c.628A>G

2 papers

NM_000531.6

p.K210fs

c.628_629fs

41 papers

NM_000531.6

p.A208T

c.622G>A

4 papers

NM_000531.6

p.S207R

c.621C>A

4 papers

NM_000531.6

p.S207R

c.621C>G

2 papers

NM_000531.6

p.A208_K210del3

c.622_629del9