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.R92P

c.275G>C

Surrounding Variants

26 papers

NM_000531.6

p.R92Q

c.275G>A

2 papers

NM_000531.6

p.R92L

c.275G>T

4 papers

NM_000531.6

p.R92G

c.274C>G

16 papers

NM_000531.6

p.R92*

c.274C>T

9 papers

NM_000531.6

p.T93A

c.277A>G

1 paper

NM_000531.6

p.T93R

c.278C>G

2 papers

NM_000531.6

p.T93I

c.278C>T

1 paper

NM_000531.6

p.T91I

c.272C>T

2 papers

NM_000531.6

p.T91P

c.271A>C

1 paper

NM_000531.6

p.T91A

c.271A>G

1 paper

NM_000531.6

p.T93T

c.279A>T

1 paper

NM_000531.6

p.T91fs

c.271_272fs