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.G60*

c.178G>T

Surrounding Variants

1 paper

NM_213653.4

p.G60R

c.178G>C

1 paper

NM_213653.4

p.G60R

c.178G>A

1 paper

NM_213653.4

p.A61E

c.182C>A

1 paper

NM_213653.4

p.L62F

c.184C>T

1 paper

NM_213653.4

p.G57delFs

c.169_170delCC

1 paper

NM_213653.4

p.G57fs

c.169_170fs

1 paper

NM_213653.4

p.G57R

c.169G>C

3 papers

NM_213653.4

p.R63*

c.187C>T

8 papers

NM_213653.4

p.R63G

c.187C>G

1 paper

NM_213653.4

p.R63ins1

c.187_188insGAG

1 paper

NM_213653.4

p.G56G

c.168G>T

1 paper

NM_213653.4

p.G55S

c.163G>A