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.D3N

c.7G>A

Surrounding Variants

1 paper

NM_001128148.3

p.M1_M2delFs

c.1_5del5

1 paper

NM_001128148.3

p.D3insFs

c.8_9ins7

1 paper

NM_001128148.3

p.D3E

c.9T>G

1 paper

NM_001128148.3

p.D3D

c.9T>C

1 paper

NM_001128148.3

p.D3E

c.9T>A

1 paper

NM_001128148.3

p.M2K

c.5T>A

1 paper

NM_001128148.3

p.Q4fs

c.10_11fs

1 paper

NM_001128148.3

p.M1I

c.3G>T

1 paper

NM_001128148.3

p.M1_M2insFs

c.3_4insA

1 paper

NM_001128148.3

p.M1I

c.3G>C

1 paper

NM_001128148.3

p.M1I

c.3G>A

1 paper

NM_001128148.3

p.Q4L

c.11A>T