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

8 papers

NM_000531.6

p.A174P

c.520G>C

Surrounding Variants

1 paper

NM_000531.6

p.A174D

c.521C>A

1 paper

NM_000531.6

p.A174V

c.521C>T

1 paper

NM_000531.6

p.D175_L179delFs

c.523_536del14

1 paper

NM_000531.6

p.L173fs

c.517_518fs

1 paper

NM_000531.6

p.D175N

c.523G>A

2 papers

NM_000531.6

p.D175fs

c.523_524fs

7 papers

NM_000531.6

p.D175G

c.524A>G

4 papers

NM_000531.6

p.D175V

c.524A>T

17 papers

NM_000531.6

p.I172M

c.516C>G

3 papers

NM_000531.6

p.I172N

c.515T>A

1 paper

NM_000531.6

p.L173delFs

c.517delC

8 papers

NM_000531.6

p.I172F

c.514A>T