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.G188delFs

c.562_563delGG

Surrounding Variants

14 papers

NM_000531.6

p.G188R

c.562G>C

1 paper

NM_000531.6

p.G188fs

c.562_563fs

1 paper

NM_000531.6

p.G188fs

c.562_563fs

5 papers

NM_000531.6

p.G188A

c.563G>C

9 papers

NM_000531.6

p.G188V

c.563G>T

2 papers

NM_000531.6

p.K187delFs

c.561delA

2 papers

NM_000531.6

p.L186P

c.557T>C

2 papers

NM_000531.6

p.T190insFs

c.568dupA

2 papers

NM_000531.6

p.T190delFs

c.568delA

4 papers

NM_000531.6

p.L191delFs

c.571delC

2 papers

NM_000531.6

p.T190fs

c.568_569fs

1 paper

NM_000531.6

p.S185F

c.554C>T