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.Y152H

c.454T>C

Surrounding Variants

1 paper

NM_001128148.3

p.Y152F

c.455A>T

1 paper

NM_001128148.3

p.E149_N150delFs

c.447_448delTT

1 paper

NM_001128148.3

p.N150S

c.449A>G

1 paper

NM_001128148.3

p.N148_E149delFs

c.442_446del5

1 paper

NM_001128148.3

p.P154T

c.460C>A

1 paper

NM_001128148.3

p.P154L

c.461C>T

1 paper

NM_001128148.3

p.P154P

c.462T>C

2 papers

NM_001128148.3

p.E149K

c.445G>A

1 paper

NM_001128148.3

p.R155C

c.463C>T

1 paper

NM_001128148.3

p.R155H

c.464G>A

1 paper

NM_001128148.3

p.L147_N148insFs

c.439_442dup4

1 paper

NM_001128148.3

p.E156E

c.468G>A