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

4 papers

NM_000531.6

p.Y183D

c.547T>G

Surrounding Variants

13 papers

NM_000531.6

p.Y183C

c.548A>G

1 paper

NM_000531.6

p.Y183F

c.548A>T

1 paper

NM_000531.6

p.H182Q

c.546C>A

1 paper

NM_000531.6

p.H182Q

c.546C>G

5 papers

NM_000531.6

p.H182L

c.545A>T

4 papers

NM_000531.6

p.S184_S185insFs

c.552_553ins4

7 papers

NM_000531.6

p.E181G

c.542A>G

1 paper

NM_000531.6

p.S185insFs

c.553_554ins4

4 papers

NM_000531.6

p.S185fs

c.553_554fs

1 paper

NM_000531.6

p.S185F

c.554C>T

2 papers

NM_000531.6

p.Q180_E181Splc

c.541-2A>G

2 papers

NM_000531.6

p.L186P

c.557T>C