Varaico: Literature-Extracted Genetic Variants

UROC1

82 papers

RefSeq Summary

This gene encodes an enzyme involved in the second step of histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. Deficiency of this enzyme results in urocanic aciduria, and is an...

Pfam Domains

Urocanase_Naa 85–211UCSCUrocanase N-terminal domain

Urocanaseaa 214–437UCSCUrocanase Rossmann-like domain

Urocanase_Caa 440–648UCSCUrocanase C-terminal domain

Gene Aliases

HGNC Name

urocanate hydratase 1

HGNC Alias Symbols

FLJ31300; HMFN0320

Papers

RefSeq ID

Protein change

DNA change

1–12 of 90 variants

7 papers

NM_144639.3

p.L70P

c.209T>C

6 papers

NM_144639.3

p.W285*

c.855G>A

5 papers

NM_144639.3

p.W285*

c.854G>A

4 papers

NM_144639.3

p.P119R

c.356C>G

3 papers

NM_144639.3

p.R188W

c.562C>T

2 papers

NM_144639.3

p.R14W

c.40C>T

2 papers

NM_144639.3

p.R20Q

c.59G>A

2 papers

NM_144639.3

p.R173W

c.517C>T

2 papers

NM_144639.3

p.Y643*

c.1929T>G

2 papers

NM_144639.3

p.Y643*

c.1929T>A

1 paper

NM_144639.3

p.A6V

c.17C>T

1 paper

NM_144639.3

p.G10A

c.29G>C