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.S137insFs

c.411dupC

Surrounding Variants

1 paper

NM_001128148.3

p.T138insFs

c.412_413insT

1 paper

NM_001128148.3

p.T138I

c.413C>T

1 paper

NM_001128148.3

p.L135_S137delFs

c.405_409del5

1 paper

NM_001128148.3

p.T138T

c.414A>G

1 paper

NM_001128148.3

p.T138T

c.414A>C

1 paper

NM_001128148.3

p.D136E

c.408C>A

1 paper

NM_001128148.3

p.D139D

c.417C>T

2 papers

NM_001128148.3

p.D136V

c.407A>T

1 paper

NM_001128148.3

p.L135ins0

c.403_405dupCTG

1 paper

NM_001128148.3

p.D136N

c.406G>A

1 paper

NM_001128148.3

p.L135R

c.404T>G

1 paper

NM_001128148.3

p.T138_F140del0

c.414_419del6