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.V187_Q188insGAG

c.559_563ins9

Surrounding Variants

12 papers

NM_213653.4

p.W191C

c.573G>T

12 papers

NM_213653.4

p.W191C

c.573G>C

5 papers

NM_213653.4

p.P192L

c.575C>T

4 papers

NM_213653.4

p.H180R

c.539A>G

6 papers

NM_213653.4

p.L194P

c.581T>C

1 paper

NM_213653.4

p.N196H

c.586A>C

1 paper

NM_213653.4

p.N196S

c.587A>G

11 papers

NM_213653.4

p.N196K

c.588T>G

11 papers

NM_213653.4

p.N196K

c.588T>A

1 paper

NM_213653.4

p.R176H

c.527G>A

11 papers

NM_213653.4

p.R176C

c.526C>T

1 paper

NM_213653.4

p.H174fs

c.520_521fs