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

1–12 of 862 variants

66 papers

NM_000531.6

p.R40H

c.119G>A

56 papers

NM_000531.6

p.R129H

c.386G>A

48 papers

NM_000531.6

p.R141Q

c.422G>A

48 papers

NM_000531.6

p.R277W

c.829C>T

41 papers

NM_000531.6

p.A208T

c.622G>A

38 papers

NM_000531.6

p.G195R

c.583G>A

38 papers

NM_000531.6

p.G195R

c.583G>C

29 papers

NM_000531.6

p.K70*

c.208A>T

28 papers

NM_000531.6

p.A209V

c.626C>T

27 papers

NM_000531.6

p.P225L

c.674C>T

26 papers

NM_000531.6

p.R92Q

c.275G>A

25 papers

NM_000531.6

p.N161S

c.482A>G