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.Y176S

c.527A>C

Surrounding Variants

7 papers

NM_000531.6

p.Y176C

c.527A>G

1 paper

NM_000531.6

p.L177delFs

c.529delC

1 paper

NM_000531.6

p.L177_T178insFs

c.530_533dup4

1 paper

NM_000531.6

p.T178_L179del0

c.532_537del6

4 papers

NM_000531.6

p.Y176H

c.526T>C

1 paper

NM_000531.6

p.L177F

c.529C>T

1 paper

NM_000531.6

p.L177fs

c.529_530fs

7 papers

NM_000531.6

p.D175G

c.524A>G

4 papers

NM_000531.6

p.D175V

c.524A>T

2 papers

NM_000531.6

p.L177R

c.530T>G

1 paper

NM_000531.6

p.D175N

c.523G>A

2 papers

NM_000531.6

p.D175fs

c.523_524fs