Varaico: Literature-Extracted Genetic Variants

IREB2

136 papers

RefSeq Summary

The protein encoded by this gene is an RNA-binding protein that acts to regulate iron levels in the cells by regulating the translation and stability of mRNAs that affect iron homeostasis under condit...

Pfam Domains

Aconitaseaa 61–145UCSCAconitase family (aconitate hydratase)

Aconitaseaa 183–639UCSCAconitase family (aconitate hydratase)

Aconitase_Caa 767–896UCSCAconitase C-terminal domain

Gene Aliases

HGNC Name

iron responsive element binding protein 2

HGNC Alias Symbol

IRP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004136.4

p.K240N

c.720G>C

Surrounding Variants

1 paper

NM_004136.4

p.K240N

c.720G>T

1 paper

NM_004136.4

p.F239L

c.717T>A

1 paper

NM_004136.4

p.F239L

c.717T>G

1 paper

NM_004136.4

p.F239L

c.715T>C

1 paper

NM_004136.4

p.F272L

c.814T>C

1 paper

NM_004136.4

p.F272L

c.816C>A

1 paper

NM_004136.4

p.F272L

c.816C>G

1 paper

NM_004136.4

p.M285_G290del6

c.853_869del18

1 paper

NM_004136.4

p.T284T

c.852G>A

1 paper

NM_004136.4

p.I291T

c.872T>C

2 papers

NM_004136.4

p.G295Splc

c.883+19A>G

1 paper

NM_004136.4

p.G295Splc

c.883+58G>A