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.R26delFs

c.78delG

Surrounding Variants

6 papers

NM_000531.6

p.R26Splc

c.78-2A>G

1 paper

NM_000531.6

p.R26Splc

c.78-3C>G

2 papers

NM_000531.6

p.R26Splc

c.78-1G>A

1 paper

NM_000531.6

p.R26_C27insFs

c.78_79insAG

1 paper

NM_000531.6

p.C27fs

c.79_80fs

1 paper

NM_000531.6

p.G28R

c.82G>A

1 paper

NM_000531.6

p.G28R

c.82G>C

1 paper

NM_000531.6

p.G28E

c.83G>A

1 paper

NM_000531.6

p.Q29_Q32del4

c.85_95del12

3 papers

NM_000531.6

p.Q32*

c.94C>T

5 papers

NM_000531.6

p.V35insFs

c.103_104insA

1 paper

NM_000531.6

p.V35fs

c.103_104fs