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.K348N

c.1044G>C

Surrounding Variants

1 paper

NM_213653.4

p.K348N

c.1044G>T

1 paper

NM_213653.4

p.E349K

c.1045G>A

1 paper

NM_213653.4

p.K348R

c.1043A>G

1 paper

NM_213653.4

p.R345Q

c.1034G>A

1 paper

NM_213653.4

p.R345W

c.1033C>T

1 paper

NM_213653.4

p.A343fs

c.1027_1028fs

2 papers

NM_213653.4

p.T342delFs

c.1026delA

5 papers

NM_213653.4

p.D355Y

c.1063G>T

1 paper

NM_213653.4

p.A356fs

c.1066_1067fs

1 paper

NM_213653.4

p.I340T

c.1019T>C

1 paper

NM_213653.4

p.Y357delFs

c.1070delT

1 paper

NM_213653.4

p.T339S

c.1016C>G