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

11 papers

NM_213653.4

p.N196K

c.588T>A

Surrounding Variants

11 papers

NM_213653.4

p.N196K

c.588T>G

1 paper

NM_213653.4

p.N196S

c.587A>G

1 paper

NM_213653.4

p.N196H

c.586A>C

6 papers

NM_213653.4

p.L194P

c.581T>C

5 papers

NM_213653.4

p.P192L

c.575C>T

12 papers

NM_213653.4

p.W191C

c.573G>T

12 papers

NM_213653.4

p.W191C

c.573G>C

1 paper

NM_213653.4

p.A203ins1

c.608_609insGGC

1 paper

NM_213653.4

p.T204_S205insGGA

c.610_614ins9

11 papers

NM_213653.4

p.S205R

c.613A>C

11 papers

NM_213653.4

p.S205R

c.615C>G

11 papers

NM_213653.4

p.S205R

c.615C>A