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.K161N

c.483A>C

Surrounding Variants

1 paper

NM_001128148.3

p.K161N

c.483A>T

2 papers

NM_001128148.3

p.A157_D162insFs

c.469_484dup16

1 paper

NM_001128148.3

p.S159delFs

c.476delG

1 paper

NM_001128148.3

p.E163delFs

c.488delT

1 paper

NM_001128148.3

p.K161_E163del3

c.481_488del9

1 paper

NM_001128148.3

p.L147_G158delFs

c.439_472del34

1 paper

NM_001128148.3

p.A166P

c.496G>C

3 papers

NM_001128148.3

p.A157T

c.469G>A

2 papers

NM_001128148.3

p.A166V

c.497C>T

1 paper

NM_001128148.3

p.E156E

c.468G>A

1 paper

NM_001128148.3

p.R155H

c.464G>A

1 paper

NM_001128148.3

p.R155C

c.463C>T