Varaico: Literature-Extracted Genetic Variants

TFRC

896 papers

RefSeq Summary

This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. M...

Pfam Domains

PAaa 205–345UCSCPA domain

Peptidase_M28aa 388–594UCSCPeptidase family M28

TFR_dimeraa 637–750UCSCTransferrin receptor-like dimerisation domain

Gene Aliases

HGNC Name

transferrin receptor

HGNC Alias Symbols

CD71; TFR1; p90

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001128148.3

p.Y222C

c.665A>G

Surrounding Variants

1 paper

NM_001128148.3

p.A221delFs

c.662_663delCG

1 paper

NM_001128148.3

p.A221V

c.662C>T

1 paper

NM_001128148.3

p.A221insFs

c.662_663insG

1 paper

NM_001128148.3

p.V220delFs

c.660delC

1 paper

NM_001128148.3

p.V220A

c.659T>C

1 paper

NM_001128148.3

p.A225T

c.673G>A

1 paper

NM_001128148.3

p.G218delFs

c.654delA

1 paper

NM_001128148.3

p.G218D

c.653G>A

1 paper

NM_001128148.3

p.A226V

c.677C>T

1 paper

NM_001128148.3

p.G217G

c.651G>A

1 paper

NM_001128148.3

p.P216S

c.646C>T

5 papers

NM_001128148.3

p.P216_G217insA

c.646_650ins3