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

17 papers

NM_213653.4

p.C80R

c.238T>C

Surrounding Variants

5 papers

NM_213653.4

p.C80Y

c.239G>A

1 paper

NM_213653.4

p.G77D

c.230G>A

1 paper

NM_213653.4

p.L83P

c.248T>C

12 papers

NM_213653.4

p.S85P

c.253T>C

1 paper

NM_213653.4

p.V74fs

c.220_221fs

5 papers

NM_213653.4

p.V74delFs

c.220delC

1 paper

NM_213653.4

p.Y86S

c.257A>C

1 paper

NM_213653.4

p.L88_C89insC

c.262_266ins3

4 papers

NM_213653.4

p.G71D

c.212G>A

5 papers

NM_213653.4

p.C89R

c.265T>C

1 paper

NM_213653.4

p.R70W

c.208C>T

1 paper

NM_213653.4

p.R70ins1

c.208_209insGGC