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.D149fs

c.445_446fs

Surrounding Variants

6 papers

NM_213653.4

p.D149delFs

c.445delC

2 papers

NM_213653.4

p.D149fs

c.445_446fs

4 papers

NM_213653.4

p.Y150C

c.449A>G

1 paper

NM_213653.4

p.E151K

c.451G>A

1 paper

NM_213653.4

p.A144S

c.430G>T

1 paper

NM_213653.4

p.A144T

c.430G>A

1 paper

NM_213653.4

p.R156fs

c.466_467fs

1 paper

NM_213653.4

p.R156delFs

c.466delG

1 paper

NM_213653.4

p.G141D

c.422G>A

1 paper

NM_213653.4

p.H158Y

c.472C>T

1 paper

NM_213653.4

p.G139R

c.415G>C

1 paper

NM_213653.4

p.G159S

c.475G>A