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

13 papers

NM_213653.4

p.A168D

c.503C>A

Surrounding Variants

1 paper

NM_213653.4

p.A168P

c.502G>C

14 papers

NM_213653.4

p.F170S

c.509T>C

5 papers

NM_213653.4

p.H166R

c.497A>G

1 paper

NM_213653.4

p.L165del1

c.493_494delCAA

1 paper

NM_213653.4

p.F164del1

c.490_491delGAA

1 paper

NM_213653.4

p.S169_F170del2

c.505_509del6

6 papers

NM_213653.4

p.L165*

c.494T>A

1 paper

NM_213653.4

p.G171V

c.512G>T

2 papers

NM_213653.4

p.D172A

c.515A>C

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