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

1–12 of 532 variants

63 papers

NM_001128148.3

p.S65C

c.193A>T

17 papers

NM_001128148.3

p.G142S

c.424G>A

13 papers

NM_001128148.3

p.Y20H

c.58T>C

10 papers

NM_001128148.3

p.D194N

c.580G>A

5 papers

NM_001128148.3

p.A72_V73insFs

c.216_217insA

5 papers

NM_001128148.3

p.L212V

c.634C>G

5 papers

NM_001128148.3

p.P216_G217insA

c.646_650ins3

4 papers

NM_001128148.3

p.N11N

c.33C>T

4 papers

NM_001128148.3

p.G14A

c.41G>C

4 papers

NM_001128148.3

p.S34N

c.101G>A

4 papers

NM_001128148.3

p.T104A

c.310A>G

4 papers

NM_001128148.3

p.R121C

c.361C>T