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

63 papers

NM_001128148.3

p.S65C

c.193A>T

Surrounding Variants

1 paper

NM_001128148.3

p.S65S

c.195T>C

1 paper

NM_001128148.3

p.I66N

c.197T>A

1 paper

NM_001128148.3

p.C67R

c.199T>C

1 paper

NM_001128148.3

p.C67S

c.199T>A

1 paper

NM_001128148.3

p.C62delFs

c.186delA

1 paper

NM_001128148.3

p.C62*

c.186T>A

1 paper

NM_001128148.3

p.C67S

c.200G>C

1 paper

NM_001128148.3

p.C62Y

c.185G>A

1 paper

NM_001128148.3

p.T70S

c.208A>T

1 paper

NM_001128148.3

p.K60E

c.178A>G

1 paper

NM_001128148.3

p.T70S

c.209C>G

2 papers

NM_001128148.3

p.P59A

c.175C>G