Varaico: Literature-Extracted Genetic Variants

HJV

293 papers

RefSeq Summary

The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also repr...

Pfam Domains

RGM_Naa 37–121UCSCRepulsive guidance molecule (RGM) N-terminal domain

RGM_Caa 163–389UCSCRepulsive guidance molecule (RGM) C-terminal domain

Gene Aliases

HGNC Name

hemojuvelin BMP co-receptor

HGNC Previous Symbol

HFE2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_213653.4

p.D172A

c.515A>C

Surrounding Variants

2 papers

NM_213653.4

p.D172insFs

c.515_516insC

18 papers

NM_213653.4

p.D172E

c.516C>G

18 papers

NM_213653.4

p.D172E

c.516C>A

1 paper

NM_213653.4

p.G171V

c.512G>T

1 paper

NM_213653.4

p.S169_F170del2

c.505_509del6

1 paper

NM_213653.4

p.H174Y

c.520C>T

14 papers

NM_213653.4

p.F170S

c.509T>C

1 paper

NM_213653.4

p.H174fs

c.520_521fs

11 papers

NM_213653.4

p.R176C

c.526C>T

1 paper

NM_213653.4

p.R176H

c.527G>A

13 papers

NM_213653.4

p.A168D

c.503C>A

1 paper

NM_213653.4

p.A168P

c.502G>C