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

2 papers

NM_000531.6

p.R129P

c.386G>C

Surrounding Variants

56 papers

NM_000531.6

p.R129H

c.386G>A

14 papers

NM_000531.6

p.R129L

c.386G>T

7 papers

NM_000531.6

p.R129C

c.385C>T

3 papers

NM_000531.6

p.R129Splc

c.386+1G>A

3 papers

NM_000531.6

p.R129Splc

c.386+1G>C

4 papers

NM_000531.6

p.R129Splc

c.386+1G>T

2 papers

NM_000531.6

p.R129Splc

c.386+2T>C

3 papers

NM_000531.6

p.R129Splc

c.386+5G>A

3 papers

NM_000531.6

p.R129Splc

c.386+8A>G

2 papers

NM_000531.6

p.D126D

c.378C>T

17 papers

NM_000531.6

p.D126G

c.377A>G

1 paper

NM_000531.6

p.D126fs

c.376_377fs