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.Y46*

c.138C>G

Surrounding Variants

5 papers

NM_213653.4

p.Y46*

c.138C>A

1 paper

NM_213653.4

p.V47L

c.139G>T

1 paper

NM_213653.4

p.V47L

c.139G>C

1 paper

NM_213653.4

p.V47V

c.141A>G

1 paper

NM_213653.4

p.L51L

c.151C>T

1 paper

NM_213653.4

p.R41L

c.122G>T

2 papers

NM_213653.4

p.R41P

c.122G>C

1 paper

NM_213653.4

p.S52C

c.154A>T

1 paper

NM_213653.4

p.R41C

c.121C>T

1 paper

NM_213653.4

p.I39T

c.116T>C

8 papers

NM_213653.4

p.R54*

c.160A>T

1 paper

NM_213653.4

p.G55S

c.163G>A