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.L131L

c.393G>A

Surrounding Variants

1 paper

NM_001128148.3

p.S132L

c.395C>T

1 paper

NM_001128148.3

p.E133*

c.397G>T

1 paper

NM_001128148.3

p.K134R

c.401A>G

1 paper

NM_001128148.3

p.L135R

c.404T>G

1 paper

NM_001128148.3

p.K128*

c.382A>T

1 paper

NM_001128148.3

p.L135ins0

c.403_405dupCTG

1 paper

NM_001128148.3

p.D136N

c.406G>A

2 papers

NM_001128148.3

p.D136V

c.407A>T

1 paper

NM_001128148.3

p.D136E

c.408C>A

1 paper

NM_001128148.3

p.D126N

c.376G>A

1 paper

NM_001128148.3

p.L135_S137delFs

c.405_409del5

1 paper

NM_001128148.3

p.D125V

c.374A>T