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.I110M

c.330C>G

Surrounding Variants

1 paper

NM_213653.4

p.I110V

c.328A>G

1 paper

NM_213653.4

p.D112Y

c.334G>T

1 paper

NM_213653.4

p.D112V

c.335A>T

1 paper

NM_213653.4

p.L113delFs

c.338delA

1 paper

NM_213653.4

p.M114I

c.342G>T

1 paper

NM_213653.4

p.M114I

c.342G>C

1 paper

NM_213653.4

p.M114I

c.342G>A

1 paper

NM_213653.4

p.I115L

c.343A>C

1 paper

NM_213653.4

p.I115M

c.345C>G

5 papers

NM_213653.4

p.Q116*

c.346C>T

4 papers

NM_213653.4

p.S105L

c.314C>T

1 paper

NM_213653.4

p.Q116K

c.346C>A