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.G255_D256delFs

c.765_766delCA

Surrounding Variants

1 paper

NM_213653.4

p.D256fs

c.766_767fs

1 paper

NM_213653.4

p.R257L

c.770G>T

1 paper

NM_213653.4

p.G260*

c.778G>T

1 paper

NM_213653.4

p.G260R

c.778G>C

1 paper

NM_213653.4

p.G260R

c.778G>A

1 paper

NM_213653.4

p.G260E

c.779G>A

1 paper

NM_213653.4

p.S251Y

c.752C>A

1 paper

NM_213653.4

p.S262G

c.784A>G

11 papers

NM_213653.4

p.G250V

c.749G>T

1 paper

NM_213653.4

p.D249G

c.746A>G

1 paper

NM_213653.4

p.L263F

c.789G>T

17 papers

NM_213653.4

p.D249H

c.745G>C