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

11 papers

NM_000531.6

p.M206R

c.617T>G

Surrounding Variants

2 papers

NM_000531.6

p.M206fs

c.616_617fs

2 papers

NM_000531.6

p.M206insFs

c.617dupT

4 papers

NM_000531.6

p.M206I

c.618G>A

4 papers

NM_000531.6

p.M206I

c.618G>C

4 papers

NM_000531.6

p.M206I

c.618G>T

4 papers

NM_000531.6

p.S207R

c.619A>C

3 papers

NM_000531.6

p.S207N

c.620G>A

7 papers

NM_000531.6

p.M205T

c.614T>C

4 papers

NM_000531.6

p.M205V

c.613A>G

4 papers

NM_000531.6

p.S207R

c.621C>A

4 papers

NM_000531.6

p.S207R

c.621C>G

2 papers

NM_000531.6

p.A208_K210del3

c.622_629del9