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

4 papers

NM_213653.4

p.C321delins

c.962_963delinsAA

Surrounding Variants

9 papers

NM_213653.4

p.C321W

c.963C>G

1 paper

NM_213653.4

p.C321fs

c.961_962fs

35 papers

NM_213653.4

p.C321*

c.963C>A

4 papers

NM_213653.4

p.C321Y

c.962G>A

1 paper

NM_213653.4

p.C321del1

c.961_962delGCA

6 papers

NM_213653.4

p.G320insFs

c.960dupG

1 paper

NM_213653.4

p.P322L

c.965C>T

2 papers

NM_213653.4

p.C321fs

c.961_962fs

108 papers

NM_213653.4

p.G320V

c.959G>T

1 paper

NM_213653.4

p.P323L

c.968C>T

1 paper

NM_213653.4

p.V318D

c.953T>A

1 paper

NM_213653.4

p.C317W

c.951T>G