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.L148W

c.443T>G

Surrounding Variants

1 paper

NM_000531.6

p.L148*

c.443T>A

3 papers

NM_000531.6

p.L148S

c.443T>C

9 papers

NM_000531.6

p.L148F

c.444G>C

8 papers

NM_000531.6

p.L148F

c.444G>T

1 paper

NM_000531.6

p.D149E

c.447C>G

1 paper

NM_000531.6

p.D147delFs

c.440delA

1 paper

NM_000531.6

p.T150delins

c.448_449delinsCC

1 paper

NM_000531.6

p.S146S

c.438A>T

2 papers

NM_000531.6

p.L151delFs

c.451delC

3 papers

NM_000531.6

p.S146*

c.437C>A

3 papers

NM_000531.6

p.S146*

c.437C>G

1 paper

NM_000531.6

p.L151fs

c.451_452fs