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.L147_G158delFs

c.439_472del34

Surrounding Variants

1 paper

NM_001128148.3

p.S159delFs

c.476delG

3 papers

NM_001128148.3

p.A157T

c.469G>A

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

1 paper

NM_001128148.3

p.K161N

c.483A>T

1 paper

NM_001128148.3

p.K161N

c.483A>C

1 paper

NM_001128148.3

p.P154P

c.462T>C

1 paper

NM_001128148.3

p.P154L

c.461C>T

2 papers

NM_001128148.3

p.A157_D162insFs

c.469_484dup16

1 paper

NM_001128148.3

p.P154T

c.460C>A

1 paper

NM_001128148.3

p.Y152F

c.455A>T