Varaico: Literature-Extracted Genetic Variants

CYBRD1

54 papers

RefSeq Summary

This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believe...

Pfam Domains

Cytochrom_B561aa 49–185UCSCEukaryotic cytochrome b561

Gene Aliases

HGNC Name

cytochrome b reductase 1

HGNC Alias Symbols

DCYTB; FLJ23462; FRRS3; CYB561A2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 28 variants

14 papers

NM_024843.4

p.S266N

c.797G>A

6 papers

NM_024843.4

p.R226H

c.677G>A

4 papers

NM_024843.4

p.A65Splc

c.194-4C>G

4 papers

NM_024843.4

p.Q134_L135Splc

c.402+8T>C

3 papers

NM_024843.4

p.L186Splc

c.558-32G>C

2 papers

NM_024843.4

p.Y6H

c.16T>C

1 paper

NM_024843.4

p.F26F

c.78C>T

1 paper

NM_024843.4

p.V55I

c.163G>A

1 paper

NM_024843.4

p.V55A

c.164T>C

1 paper

NM_024843.4

p.T56S

c.167C>G

1 paper

NM_024843.4

p.G57S

c.169G>A

1 paper

NM_024843.4

p.I64V

c.190A>G