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.P59A

c.175C>G

Surrounding Variants

1 paper

NM_001128148.3

p.K58I

c.173A>T

1 paper

NM_001128148.3

p.K58R

c.173A>G

1 paper

NM_001128148.3

p.K60E

c.178A>G

1 paper

NM_001128148.3

p.T57T

c.171A>G

1 paper

NM_001128148.3

p.C62Y

c.185G>A

1 paper

NM_001128148.3

p.C62*

c.186T>A

1 paper

NM_001128148.3

p.N55S

c.164A>G

1 paper

NM_001128148.3

p.A54_N55del1

c.161_163delTGG

1 paper

NM_001128148.3

p.N55D

c.163A>G

1 paper

NM_001128148.3

p.C62delFs

c.186delA

1 paper

NM_001128148.3

p.A54delFs

c.161delG

1 paper

NM_001128148.3

p.K53N

c.159G>C