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.P129L

c.386C>T

Surrounding Variants

1 paper

NM_213653.4

p.P129P

c.387G>A

1 paper

NM_213653.4

p.P129S

c.385C>T

1 paper

NM_213653.4

p.P128T

c.382C>A

1 paper

NM_213653.4

p.R131P

c.392G>C

1 paper

NM_213653.4

p.R131Q

c.392G>A

2 papers

NM_213653.4

p.R131fs

c.391_392fs

1 paper

NM_213653.4

p.P133L

c.398C>T

2 papers

NM_213653.4

p.L135R

c.404T>G

1 paper

NM_213653.4

p.R131_L135delFs

c.391_403del13

1 paper

NM_213653.4

p.P136S

c.406C>T

1 paper

NM_213653.4

p.Q122K

c.364C>A

1 paper

NM_213653.4

p.G139R

c.415G>C