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.K299E

c.895A>G

Surrounding Variants

1 paper

NM_213653.4

p.S297F

c.890C>T

10 papers

NM_213653.4

p.E302K

c.904G>A

1 paper

NM_213653.4

p.D303D

c.909T>C

1 paper

NM_213653.4

p.Q293L

c.878A>T

1 paper

NM_213653.4

p.A307S

c.919G>T

3 papers

NM_213653.4

p.R288Q

c.863G>A

1 paper

NM_213653.4

p.S309delFs

c.926delG

14 papers

NM_213653.4

p.R288W

c.862C>T

12 papers

NM_213653.4

p.A310G

c.929C>G

5 papers

NM_213653.4

p.I287S

c.860T>G

21 papers

NM_213653.4

p.Q312*

c.934C>T

1 paper

NM_213653.4

p.D313N

c.937G>A