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.L163R

c.488T>G

Surrounding Variants

1 paper

NM_000531.6

p.L163P

c.488T>C

2 papers

NM_000531.6

p.S164P

c.490T>C

5 papers

NM_000531.6

p.S164*

c.491C>A

5 papers

NM_000531.6

p.S164*

c.491C>G

3 papers

NM_000531.6

p.G162E

c.485G>A

6 papers

NM_000531.6

p.G162R

c.484G>A

6 papers

NM_000531.6

p.G162R

c.484G>C

4 papers

NM_000531.6

p.D165Y

c.493G>T

4 papers

NM_000531.6

p.N161K

c.483T>A

4 papers

NM_000531.6

p.N161K

c.483T>G

25 papers

NM_000531.6

p.N161S

c.482A>G

1 paper

NM_000531.6

p.D165G

c.494A>G