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

22 papers

NM_213653.4

p.I222N

c.665T>A

Surrounding Variants

1 paper

NM_213653.4

p.T221S

c.662C>G

1 paper

NM_213653.4

p.T221S

c.661A>T

1 paper

NM_145277.5

p.K112M

c.335A>T

1 paper

NM_213653.4

p.K225N

c.675G>T

1 paper

NM_213653.4

p.K225N

c.675G>C

1 paper

NM_213653.4

p.M227T

c.680T>C

1 paper

NM_213653.4

p.I231V

c.691A>G

1 paper

NM_213653.4

p.I231T

c.692T>C

1 paper

NM_213653.4

p.Q233delFs

c.697delG

1 paper

NM_213653.4

p.K234*

c.700A>T

2 papers

NM_213653.4

p.K234del1

c.700_701delCTT

1 paper

NM_213653.4

p.V235A

c.704T>C