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.T339S

c.1016C>G

Surrounding Variants

1 paper

NM_213653.4

p.T339N

c.1016C>A

1 paper

NM_213653.4

p.T339S

c.1015A>T

1 paper

NM_213653.4

p.I340T

c.1019T>C

6 papers

NM_213653.4

p.G336*

c.1006G>T

2 papers

NM_213653.4

p.T342delFs

c.1026delA

7 papers

NM_213653.4

p.R335Q

c.1004G>A

1 paper

NM_213653.4

p.A343fs

c.1027_1028fs

1 paper

NM_213653.4

p.R334H

c.1001G>A

1 paper

NM_213653.4

p.N333K

c.999T>G

1 paper

NM_213653.4

p.N333K

c.999T>A

1 paper

NM_213653.4

p.R345W

c.1033C>T

1 paper

NM_213653.4

p.R345Q

c.1034G>A