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

5 papers

NM_001128148.3

p.L212V

c.634C>G

Surrounding Variants

1 paper

NM_001128148.3

p.L212L

c.636G>T

2 papers

NM_001128148.3

p.Y211C

c.632A>G

1 paper

NM_001128148.3

p.V210delFs

c.629delA

1 paper

NM_001128148.3

p.Y211D

c.631T>G

1 paper

NM_001128148.3

p.V213_E214insT

c.637_641ins3

1 paper

NM_001128148.3

p.V213A

c.638T>C

1 paper

NM_001128148.3

p.V210D

c.629T>A

1 paper

NM_001128148.3

p.L209P

c.626T>C

1 paper

NM_001128148.3

p.G207_R208delFs

c.621_624del4

1 paper

NM_001128148.3

p.R208K

c.623G>A

1 paper

NM_001128148.3

p.P216S

c.646C>T

5 papers

NM_001128148.3

p.P216_G217insA

c.646_650ins3