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.T264S

c.791C>G

Surrounding Variants

3 papers

NM_000531.6

p.T264N

c.791C>A

3 papers

NM_000531.6

p.T264I

c.791C>T

1 paper

NM_000531.6

p.T264P

c.790A>C

15 papers

NM_000531.6

p.T264A

c.790A>G

5 papers

NM_000531.6

p.I266_G269delFs

c.796_805del10

2 papers

NM_000531.6

p.W265R

c.793T>A

2 papers

NM_000531.6

p.W265R

c.793T>C

7 papers

NM_000531.6

p.D263G

c.788A>G

6 papers

NM_000531.6

p.W265*

c.794G>A

5 papers

NM_000531.6

p.W265L

c.794G>T

8 papers

NM_000531.6

p.D263N

c.787G>A

4 papers

NM_000531.6

p.W265*

c.795G>A