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

Selected Variant

1 paper

NM_148174.4

p.L45delFs

c.134_135delAA

Surrounding Variants

1 paper

NM_148174.4

p.F40delFs

c.119_120delAA

1 paper

NM_148174.4

p.K50M

c.149A>T

1 paper

NM_148174.4

p.S53T

c.158G>C

1 paper

NM_148174.4

p.K37K

c.111A>G

1 paper

NM_148174.4

p.Q61K

c.181C>A

1 paper

NM_148174.4

p.P64P

c.192A>G

1 paper

NM_148174.4

p.N71D

c.211A>G

1 paper

NM_148174.4

p.N71S

c.212A>G

1 paper

NM_148174.4

p.S72S

c.216T>A

1 paper

NM_148174.4

p.L80M

c.238T>A

1 paper

NM_148174.4

p.I111R

c.332T>G

1 paper

NM_148174.4

p.Q116*

c.346C>T