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.F249_E251del0

c.746_751del6

Surrounding Variants

1 paper

NM_052998.4

p.E251Q

c.751G>C

1 paper

NM_052998.4

p.G238G

c.714C>T

1 paper

NM_052998.4

p.G237delFs

c.709_710delGG

1 paper

NM_052998.4

p.E221A

c.662A>C

1 paper

NM_052998.4

p.E221G

c.662A>G

1 paper

NM_052998.4

p.E221K

c.661G>A

1 paper

NM_052998.4

p.S201G

c.601A>G

1 paper

NM_052998.4

p.I199F

c.595A>T

1 paper

NM_052998.4

p.H198Y

c.592C>T

1 paper

NM_052998.4

p.V193L

c.577G>T

2 papers

NM_052998.4

p.H188N

c.562C>A

3 papers

NM_052998.4

p.A185V

c.554C>T