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

5 papers

NM_000531.6

p.L42del1

c.124_126delCTT

Surrounding Variants

3 papers

NM_000531.6

p.D41A

c.122A>C

8 papers

NM_000531.6

p.D41G

c.122A>G

2 papers

NM_000531.6

p.L43del1

c.127_128delCTC

5 papers

NM_000531.6

p.L43F

c.127C>T

66 papers

NM_000531.6

p.R40H

c.119G>A

2 papers

NM_000531.6

p.R40L

c.119G>T

16 papers

NM_000531.6

p.R40C

c.118C>T

2 papers

NM_000531.6

p.L43P

c.128T>C

1 paper

NM_000531.6

p.G39G

c.117C>G

1 paper

NM_000531.6

p.T44_T49del0

c.132_146del15

4 papers

NM_000531.6

p.G39D

c.116G>A

1 paper

NM_000531.6

p.G39A

c.116G>C