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

1 paper

NM_000531.6

p.T99K

c.296C>A

Surrounding Variants

1 paper

NM_000531.6

p.T99I

c.296C>T

2 papers

NM_000531.6

p.G100delFs

c.298delG

5 papers

NM_000531.6

p.G100R

c.298G>C

1 paper

NM_000531.6

p.G100C

c.298G>T

7 papers

NM_000531.6

p.G100D

c.299G>A

1 paper

NM_000531.6

p.G100Splc

c.298+1G>C

4 papers

NM_000531.6

p.E98K

c.292G>A

1 paper

NM_000531.6

p.E98Q

c.292G>C

5 papers

NM_000531.6

p.G100Splc

c.298+2T>G

5 papers

NM_000531.6

p.G100Splc

c.298+5G>C

2 papers

NM_000531.6

p.S96F

c.287C>T

1 paper

NM_000531.6

p.S96P

c.286T>C