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

12 papers

NM_213653.4

p.A310G

c.929C>G

Surrounding Variants

1 paper

NM_213653.4

p.S309delFs

c.926delG

21 papers

NM_213653.4

p.Q312*

c.934C>T

1 paper

NM_213653.4

p.D313N

c.937G>A

1 paper

NM_213653.4

p.A307S

c.919G>T

1 paper

NM_213653.4

p.Q315R

c.944A>G

1 paper

NM_213653.4

p.D303D

c.909T>C

3 papers

NM_213653.4

p.C317S

c.949T>A

3 papers

NM_213653.4

p.C317S

c.950G>C

1 paper

NM_213653.4

p.C317Y

c.950G>A

1 paper

NM_213653.4

p.C317W

c.951T>G

1 paper

NM_213653.4

p.V318D

c.953T>A

10 papers

NM_213653.4

p.E302K

c.904G>A