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.T247R

c.740C>G

Surrounding Variants

7 papers

NM_000531.6

p.T247K

c.740C>A

1 paper

NM_000531.6

p.N248delFs

c.744delT

5 papers

NM_000531.6

p.D249G

c.746A>G

1 paper

NM_000531.6

p.L245S

c.734T>C

1 paper

NM_000531.6

p.L245L

c.733T>C

1 paper

NM_000531.6

p.P250L

c.749C>T

4 papers

NM_000531.6

p.L244Q

c.731T>A

1 paper

NM_000531.6

p.L244_T247del0

c.731_739del9

1 paper

NM_000531.6

p.K243_L244insFs

c.729_730insTT

1 paper

NM_000531.6

p.K243T

c.728A>C

1 paper

NM_000531.6

p.K243_L245del3

c.727_734del9

8 papers

NM_000531.6

p.T242I

c.725C>T