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

4 papers

NM_001128148.3

p.R121C

c.361C>T

Surrounding Variants

1 paper

NM_001128148.3

p.R120insFs

c.359dupG

1 paper

NM_001128148.3

p.R121H

c.362G>A

1 paper

NM_001128148.3

p.R120H

c.359G>A

1 paper

NM_001128148.3

p.R120C

c.358C>T

1 paper

NM_001128148.3

p.Y123C

c.368A>G

1 paper

NM_001128148.3

p.A118A

c.354A>G

2 papers

NM_001128148.3

p.Y123S

c.368A>C

1 paper

NM_001128148.3

p.W124R

c.370T>A

1 paper

NM_001128148.3

p.P117L

c.350C>T

4 papers

NM_001128148.3

p.D125N

c.373G>A

1 paper

NM_001128148.3

p.D125V

c.374A>T

1 paper

NM_001128148.3

p.D126N

c.376G>A