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.S330L

c.989C>T

Surrounding Variants

1 paper

NM_213653.4

p.E331Q

c.991G>C

1 paper

NM_213653.4

p.R329L

c.986G>T

1 paper

NM_213653.4

p.R329P

c.986G>C

1 paper

NM_213653.4

p.R329Q

c.986G>A

1 paper

NM_213653.4

p.S328_R329delFs

c.982_985del4

1 paper

NM_213653.4

p.E331D

c.993G>T

1 paper

NM_213653.4

p.E331D

c.993G>C

4 papers

NM_213653.4

p.R329*

c.985C>T

2 papers

NM_213653.4

p.S328fs

c.982_983fs

1 paper

NM_213653.4

p.R332C

c.994C>T

1 paper

NM_213653.4

p.R332H

c.995G>A

1 paper

NM_213653.4

p.R326del1

c.976_977delTCG