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.S416Y

c.1247C>A

Surrounding Variants

1 paper

NM_213653.4

p.S416F

c.1247C>T

1 paper

NM_213653.4

p.S416P

c.1246T>C

1 paper

NM_213653.4

p.G417R

c.1249G>C

1 paper

NM_213653.4

p.G417R

c.1249G>A

1 paper

NM_213653.4

p.L415H

c.1244T>A

1 paper

NM_213653.4

p.L415F

c.1243C>T

1 paper

NM_213653.4

p.P413S

c.1237C>T

1 paper

NM_213653.4

p.L411del1

c.1231_1233delTAA

1 paper

NM_213653.4

p.L421M

c.1261C>A

1 paper

NM_213653.4

p.W422C

c.1266G>T

1 paper

NM_213653.4

p.W422C

c.1266G>C

1 paper

NM_213653.4

p.L423I

c.1267C>A