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.V403I

c.1207G>A

Surrounding Variants

1 paper

NM_213653.4

p.V403A

c.1208T>C

1 paper

NM_213653.4

p.G402E

c.1205G>A

1 paper

NM_213653.4

p.L391_V403del13

c.1171_1208del39

1 paper

NM_213653.4

p.D400V

c.1199A>T

1 paper

NM_213653.4

p.S406F

c.1217C>T

1 paper

NM_213653.4

p.P398L

c.1193C>T

1 paper

NM_213653.4

p.P398S

c.1192C>T

1 paper

NM_213653.4

p.T409A

c.1225A>G

2 papers

NM_213653.4

p.L396F

c.1186C>T

1 paper

NM_213653.4

p.H395delFs

c.1183delG

1 paper

NM_213653.4

p.H395fs

c.1183_1184fs

1 paper

NM_145277.5

p.L281P

c.842T>C