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.H390H

c.1170T>C

Surrounding Variants

1 paper

NM_148174.4

p.S367N

c.1100G>A

29 papers

NM_148174.4

p.S367G

c.1099A>G

1 paper

NM_148174.4

p.E366E

c.1098A>G

1 paper

NM_148174.4

p.W354*

c.1061G>A

1 paper

NM_148174.4

p.H339R

c.1016A>G

1 paper

NM_148174.4

p.E330K

c.988G>A

1 paper

NM_148174.4

p.S329Y

c.986C>A

1 paper

NM_148174.4

p.P310S

c.928C>T

1 paper

NM_148174.4

p.V302_E303del1

c.905_907delCTA

1 paper

NM_148174.4

p.V302I

c.904G>A

1 paper

NM_148174.4

p.F430_F431del1

c.1290_1292delAAG

2 papers

NM_148174.4

p.S443R

c.1327A>C