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.L59P

c.176T>C

Surrounding Variants

3 papers

NM_000531.6

p.L59R

c.176T>G

4 papers

NM_000531.6

p.W58*

c.174G>A

7 papers

NM_000531.6

p.S60L

c.179C>T

5 papers

NM_000531.6

p.W58*

c.173G>A

1 paper

NM_000531.6

p.W58L

c.173G>T

2 papers

NM_000531.6

p.L57Q

c.170T>A

1 paper

NM_000531.6

p.L57P

c.170T>C

2 papers

NM_000531.6

p.D62_K64delFs

c.186_190del5

2 papers

NM_000531.6

p.D62H

c.184G>C

1 paper

NM_000531.6

p.D62G

c.185A>G

1 paper

NM_000531.6

p.M56K

c.167T>A

4 papers

NM_000531.6

p.M56T

c.167T>C