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

1 paper

NM_052998.4

p.N136Y

c.406A>T

Surrounding Variants

1 paper

NM_052998.4

p.L131M

c.391C>A

1 paper

NM_052998.4

p.V143_V144ins1

c.429_430insGCA

1 paper

NM_052998.4

p.V144L

c.430G>C

1 paper

NM_052998.4

p.P148S

c.442C>T

1 paper

NM_052998.4

p.A124S

c.370G>T

1 paper

NM_052998.4

p.A119S

c.355G>T

1 paper

NM_052998.4

p.I109L

c.325A>C

1 paper

NM_052998.4

p.I102M

c.306T>G

1 paper

NM_052998.4

p.H101L

c.302A>T

1 paper

NM_052998.4

p.A94T

c.280G>A

1 paper

NM_052998.4

p.I156S

c.467T>G

1 paper

NM_052998.4

p.L169P

c.506T>C