Varaico: Literature-Extracted Genetic Variants

AZIN2

100 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 41–388UCSCPyridoxal-dependent decarboxylase, C-terminal sheet domain

Orn_Arg_deC_Naa 46–282UCSCPyridoxal-dependent decarboxylase, pyridoxal binding domain

Gene Aliases

HGNC Name

antizyme inhibitor 2

HGNC Previous Symbol

ADC

Papers

RefSeq ID

Protein change

DNA change

1–12 of 57 variants

3 papers

NM_052998.4

p.A185V

c.554C>T

2 papers

NM_052998.4

p.T27S

c.79A>T

2 papers

NM_052998.4

p.T27S

c.80C>G

2 papers

NM_052998.4

p.H188N

c.562C>A

2 papers

NM_052998.4

p.S310F

c.929C>T

2 papers

NM_052998.4

p.V323M

c.967G>A

1 paper

NM_052998.4

p.T35_D36Splc

c.106-64C>T

1 paper

NM_052998.4

p.D36H

c.106G>C

1 paper

NM_052998.4

p.V50M

c.148G>A

1 paper

NM_052998.4

p.K52K

c.156G>A

1 paper

NM_052998.4

p.V63I

c.187G>A

1 paper

NM_052998.4

p.F66Y

c.197T>A