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.S267R

c.801C>G

Surrounding Variants

8 papers

NM_000531.6

p.S267R

c.801C>A

3 papers

NM_000531.6

p.M268V

c.802A>G

1 paper

NM_000531.6

p.S267T

c.800G>C

8 papers

NM_000531.6

p.S267R

c.799A>C

2 papers

NM_000531.6

p.S267fs

c.799_800fs

14 papers

NM_000531.6

p.M268T

c.803T>C

4 papers

NM_000531.6

p.G269R

c.805G>A

3 papers

NM_000531.6

p.G269R

c.805G>C

1 paper

NM_000531.6

p.I266K

c.797T>A

2 papers

NM_000531.6

p.S267insFs

c.799_800insA

6 papers

NM_000531.6

p.G269E

c.806G>A

4 papers

NM_000531.6

p.W265*

c.795G>A