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.A102E

c.305C>A

Surrounding Variants

4 papers

NM_000531.6

p.A102P

c.304G>C

3 papers

NM_000531.6

p.F101L

c.303T>A

3 papers

NM_000531.6

p.F101L

c.303T>G

3 papers

NM_000531.6

p.F101L

c.301T>C

3 papers

NM_000531.6

p.G100D

c.299G>A

2 papers

NM_000531.6

p.G100fs

c.298_299fs

1 paper

NM_000531.6

p.G100Splc

c.299-1G>A

1 paper

NM_000531.6

p.G100Splc

c.299-2A>T

1 paper

NM_000531.6

p.G105*

c.313G>T

2 papers

NM_000531.6

p.G105E

c.314G>A

3 papers

NM_000531.6

p.G105V

c.314G>T

4 papers

NM_000531.6

p.G106R

c.316G>A