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.L179fs

c.535_536fs

Surrounding Variants

6 papers

NM_000531.6

p.L179F

c.535C>T

3 papers

NM_000531.6

p.L179P

c.536T>C

24 papers

NM_000531.6

p.T178M

c.533C>T

1 paper

NM_000531.6

p.T178insFs

c.533dupC

2 papers

NM_000531.6

p.Q180*

c.538C>T

2 papers

NM_000531.6

p.Q180P

c.539A>C

12 papers

NM_000531.6

p.Q180H

c.540G>C

12 papers

NM_000531.6

p.Q180H

c.540G>T

2 papers

NM_000531.6

p.L177R

c.530T>G

1 paper

NM_000531.6

p.L177F

c.529C>T

1 paper

NM_000531.6

p.L177fs

c.529_530fs

2 papers

NM_000531.6

p.Q180_E181Splc

c.540+1G>A