Varaico: Literature-Extracted Genetic Variants

AZIN1

71 papers

RefSeq Summary

The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors...

Pfam Domains

Orn_DAP_Arg_deCaa 27–385UCSCPyridoxal-dependent decarboxylase, C-terminal sheet domain

Orn_Arg_deC_Naa 45–278UCSCPyridoxal-dependent decarboxylase, pyridoxal binding domain

Gene Aliases

HGNC Name

antizyme inhibitor 1

HGNC Previous Symbol

OAZIN

Papers

RefSeq ID

Protein change

DNA change

1–12 of 57 variants

29 papers

NM_148174.4

p.S367G

c.1099A>G

2 papers

NM_148174.4

p.Y10C

c.29A>G

2 papers

NM_148174.4

p.S443R

c.1327A>C

2 papers

NM_148174.4

p.S443R

c.1329C>G

2 papers

NM_148174.4

p.S443R

c.1329C>A

1 paper

NM_148174.4

p.V12I

c.34G>A

1 paper

NM_148174.4

p.G13C

c.37G>T

1 paper

NM_148174.4

p.G13D

c.38G>A

1 paper

NM_148174.4

p.D26delFs

c.76delC

1 paper

NM_148174.4

p.V29I

c.85G>A

1 paper

NM_148174.4

p.K37K

c.111A>G

1 paper

NM_148174.4

p.F40delFs

c.119_120delAA