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

3 papers

NM_213653.4

p.S264L

c.791C>T

Surrounding Variants

1 paper

NM_213653.4

p.S264S

c.792G>C

1 paper

NM_213653.4

p.L263F

c.789G>T

1 paper

NM_213653.4

p.L263F

c.789G>C

1 paper

NM_213653.4

p.S262G

c.784A>G

1 paper

NM_213653.4

p.G260E

c.779G>A

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.N269S

c.806A>G

1 paper

NM_213653.4

p.N269K

c.807C>G

2 papers

NM_213653.4

p.N269fs

c.805_806fs

5 papers

NM_213653.4

p.N269insFs

c.806dupA