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

2 papers

NM_001128148.3

p.K39R

c.116A>G

Surrounding Variants

1 paper

NM_001128148.3

p.K39E

c.115A>G

1 paper

NM_001128148.3

p.L40F

c.118C>T

1 paper

NM_001128148.3

p.A41G

c.122C>G

1 paper

NM_001128148.3

p.V42insFs

c.125dupT

1 paper

NM_001128148.3

p.D43H

c.127G>C

1 paper

NM_001128148.3

p.S34R

c.102T>A

4 papers

NM_001128148.3

p.S34N

c.101G>A

1 paper

NM_001128148.3

p.S34R

c.100A>C

1 paper

NM_001128148.3

p.E45*

c.133G>T

1 paper

NM_001128148.3

p.N33H

c.97A>C

1 paper

NM_001128148.3

p.D32E

c.96T>A

1 paper

NM_001128148.3

p.D32G

c.95A>G