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

48 papers

NM_000531.6

p.R277W

c.829C>T

Surrounding Variants

4 papers

NM_000531.6

p.L278_A280delFs

c.834_840del7

17 papers

NM_000531.6

p.R277Q

c.830G>A

2 papers

NM_000531.6

p.R277L

c.830G>T

1 paper

NM_000531.6

p.L278ins1

c.832_833insAAT

2 papers

NM_000531.6

p.K275*

c.823A>T

2 papers

NM_000531.6

p.Q279fs

c.835_836fs

4 papers

NM_000531.6

p.Q279*

c.835C>T

2 papers

NM_000531.6

p.Q279fs

c.835_836fs

1 paper

NM_000531.6

p.Q279Q

c.837G>A

2 papers

NM_000531.6

p.A280T

c.838G>A

1 paper

NM_000531.6

p.A280V

c.839C>T

1 paper

NM_000531.6

p.E273G

c.818A>G