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.R70W

c.208C>T

Surrounding Variants

1 paper

NM_213653.4

p.R70ins1

c.208_209insGGC

2 papers

NM_213653.4

p.G69del1

c.205_206delGCC

2 papers

NM_213653.4

p.G69_R70ins1

c.207_208insGGA

1 paper

NM_213653.4

p.G68_G69del1

c.204_206delCCT

4 papers

NM_213653.4

p.G71D

c.212G>A

1 paper

NM_213653.4

p.G68_G69ins1

c.204_205insGGA

1 paper

NM_213653.4

p.G68E

c.203G>A

1 paper

NM_213653.4

p.G67E

c.200G>A

7 papers

NM_213653.4

p.G66*

c.196G>T

5 papers

NM_213653.4

p.V74delFs

c.220delC

1 paper

NM_213653.4

p.V74fs

c.220_221fs

3 papers

NM_213653.4

p.R63*

c.187C>T