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

1–12 of 351 variants

108 papers

NM_213653.4

p.G320V

c.959G>T

35 papers

NM_213653.4

p.C321*

c.963C>A

24 papers

NM_213653.4

p.G99V

c.296G>T

22 papers

NM_213653.4

p.I222N

c.665T>A

21 papers

NM_213653.4

p.I281T

c.842T>C

21 papers

NM_213653.4

p.Q312*

c.934C>T

20 papers

NM_213653.4

p.L101P

c.302T>C

19 papers

NM_213653.4

p.G282D

c.845G>A

18 papers

NM_213653.4

p.D172E

c.516C>G

18 papers

NM_213653.4

p.D172E

c.516C>A

17 papers

NM_213653.4

p.C80R

c.238T>C

17 papers

NM_213653.4

p.G99R

c.295G>A