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

1 paper

NM_000531.6

p.F65S

c.194T>C

Surrounding Variants

1 paper

NM_000531.6

p.R66G

c.196A>G

4 papers

NM_000531.6

p.L63P

c.188T>C

2 papers

NM_000531.6

p.I67R

c.200T>G

1 paper

NM_000531.6

p.D62G

c.185A>G

1 paper

NM_000531.6

p.K68N

c.204A>T

2 papers

NM_000531.6

p.D62H

c.184G>C

2 papers

NM_000531.6

p.D62_K64delFs

c.186_190del5

7 papers

NM_000531.6

p.Q69*

c.205C>T

1 paper

NM_000531.6

p.Q69fs

c.205_206fs

2 papers

NM_000531.6

p.K70delFs

c.209_210delAA

2 papers

NM_000531.6

p.K70del1

c.208_210delAAA

1 paper

NM_000531.6

p.K70fs

c.208_209fs