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

Selected Variant

2 papers

NM_052998.4

p.S310F

c.929C>T

Surrounding Variants

2 papers

NM_052998.4

p.V323M

c.967G>A

1 paper

NM_052998.4

p.E306Splc

c.916+99G>A

1 paper

NM_052998.4

p.E305E

c.915G>A

1 paper

NM_052998.4

p.I291V

c.871A>G

1 paper

NM_052998.4

p.A288S

c.862G>T

1 paper

NM_052998.4

p.S283A

c.847T>G

1 paper

NM_052998.4

p.D271E

c.813C>A

1 paper

NM_052998.4

p.D271E

c.813C>G

1 paper

NM_052998.4

p.D271A

c.812A>C

1 paper

NM_052998.4

p.P265P

c.795A>T

1 paper

NM_052998.4

p.S254P

c.760T>C

1 paper

NM_052998.4

p.E251Q

c.751G>C