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.L201P

c.602T>C

Surrounding Variants

3 papers

NM_000531.6

p.L201M

c.601C>A

11 papers

NM_000531.6

p.H202Y

c.604C>T

5 papers

NM_000531.6

p.H202P

c.605A>C

1 paper

NM_000531.6

p.H202L

c.605A>T

1 paper

NM_000531.6

p.H202_S203delFs

c.606_607delCT

1 paper

NM_000531.6

p.I200fs

c.598_599fs

1 paper

NM_000531.6

p.S203T

c.607T>A

2 papers

NM_000531.6

p.S203P

c.607T>C

4 papers

NM_000531.6

p.N199S

c.596A>G

7 papers

NM_000531.6

p.S203C

c.608C>G

2 papers

NM_000531.6

p.S203F

c.608C>T

3 papers

NM_000531.6

p.N199H

c.595A>C