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

1 paper

NM_213653.4

p.R95G

c.283C>G

Surrounding Variants

1 paper

NM_213653.4

p.R95H

c.284G>A

1 paper

NM_213653.4

p.A94A

c.282C>T

1 paper

NM_213653.4

p.A94T

c.280G>A

16 papers

NM_213653.4

p.G99R

c.295G>C

17 papers

NM_213653.4

p.G99R

c.295G>A

24 papers

NM_213653.4

p.G99V

c.296G>T

1 paper

NM_213653.4

p.D100E

c.300C>G

1 paper

NM_213653.4

p.D100E

c.300C>A

5 papers

NM_213653.4

p.C89R

c.265T>C

20 papers

NM_213653.4

p.L101P

c.302T>C

1 paper

NM_213653.4

p.L88_C89insC

c.262_266ins3

7 papers

NM_213653.4

p.F103L

c.307T>C