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.G39D

c.116G>A

Surrounding Variants

1 paper

NM_000531.6

p.G39A

c.116G>C

5 papers

NM_000531.6

p.G39V

c.116G>T

1 paper

NM_000531.6

p.G39G

c.117C>G

1 paper

NM_000531.6

p.G39_R40insT

c.115_119ins3

9 papers

NM_000531.6

p.G39C

c.115G>T

16 papers

NM_000531.6

p.R40C

c.118C>T

66 papers

NM_000531.6

p.R40H

c.119G>A

2 papers

NM_000531.6

p.R40L

c.119G>T

3 papers

NM_000531.6

p.D41A

c.122A>C

8 papers

NM_000531.6

p.D41G

c.122A>G

1 paper

NM_000531.6

p.L37M

c.109C>A

5 papers

NM_000531.6

p.L42del1

c.124_126delCTT