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

16 papers

NM_000531.6

p.K88N

c.264A>T

Surrounding Variants

15 papers

NM_000531.6

p.K88N

c.264A>C

1 paper

NM_000531.6

p.K88T

c.263A>C

2 papers

NM_000531.6

p.K88R

c.263A>G

2 papers

NM_000531.6

p.K88Q

c.262A>C

5 papers

NM_000531.6

p.S90R

c.268A>C

8 papers

NM_000531.6

p.S90G

c.268A>G

1 paper

NM_000531.6

p.S90delFs

c.269delG

6 papers

NM_000531.6

p.S90N

c.269G>A

3 papers

NM_000531.6

p.E87K

c.259G>A

1 paper

NM_000531.6

p.E87*

c.259G>T

5 papers

NM_000531.6

p.S90R

c.270T>A

5 papers

NM_000531.6

p.S90R

c.270T>G