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

9 papers

NM_000531.6

p.G79E

c.236G>A

Surrounding Variants

1 paper

NM_000531.6

p.G79A

c.236G>C

1 paper

NM_000531.6

p.G79delins

c.236_237delinsAA

1 paper

NM_000531.6

p.K80delFs

c.239delA

3 papers

NM_000531.6

p.K80E

c.238A>G

1 paper

NM_000531.6

p.Q78Q

c.234A>G

1 paper

NM_000531.6

p.K80fs

c.238_239fs

2 papers

NM_000531.6

p.Q78*

c.232C>T

4 papers

NM_000531.6

p.K80N

c.240G>C

4 papers

NM_000531.6

p.K80N

c.240G>T

5 papers

NM_000531.6

p.L77F

c.231G>C

6 papers

NM_000531.6

p.L77F

c.231G>T

1 paper

NM_000531.6

p.S81P

c.241T>C