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.I53F

c.157A>T

Surrounding Variants

6 papers

NM_000531.6

p.E52D

c.156A>C

6 papers

NM_000531.6

p.E52D

c.156A>T

3 papers

NM_000531.6

p.I53T

c.158T>C

1 paper

NM_000531.6

p.I53S

c.158T>G

3 papers

NM_000531.6

p.E52G

c.155A>G

1 paper

NM_000531.6

p.K54insFs

c.162dupA

1 paper

NM_000531.6

p.K54*

c.160A>T

6 papers

NM_000531.6

p.E52K

c.154G>A

3 papers

NM_000531.6

p.E52*

c.154G>T

13 papers

NM_000531.6

p.Y55D

c.163T>G

1 paper

NM_000531.6

p.Y55C

c.164A>G

1 paper

NM_000531.6

p.E51delFs

c.151delG