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

5 papers

NM_213653.4

p.I287S

c.860T>G

Surrounding Variants

14 papers

NM_213653.4

p.R288W

c.862C>T

3 papers

NM_213653.4

p.R288Q

c.863G>A

1 paper

NM_213653.4

p.G282delFs

c.845delC

19 papers

NM_213653.4

p.G282D

c.845G>A

21 papers

NM_213653.4

p.I281T

c.842T>C

1 paper

NM_213653.4

p.Q293L

c.878A>T

1 paper

NM_213653.4

p.Y280*

c.840C>G

1 paper

NM_213653.4

p.Y280N

c.838T>A

1 paper

NM_213653.4

p.S297F

c.890C>T

2 papers

NM_213653.4

p.I276I

c.828C>A

2 papers

NM_213653.4

p.K299E

c.895A>G

1 paper

NM_213653.4

p.E275K

c.823G>A