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.P94Q

c.281C>A

Surrounding Variants

1 paper

NM_001128148.3

p.T96A

c.286A>G

1 paper

NM_001128148.3

p.E97E

c.291G>A

1 paper

NM_001128148.3

p.C98G

c.292T>G

1 paper

NM_001128148.3

p.C98R

c.292T>C

1 paper

NM_001128148.3

p.C98S

c.292T>A

1 paper

NM_001128148.3

p.C98S

c.293G>C

1 paper

NM_001128148.3

p.C98Y

c.293G>A

1 paper

NM_001128148.3

p.K90I

c.269A>T

1 paper

NM_001128148.3

p.C89S

c.266G>C

1 paper

NM_001128148.3

p.C89R

c.265T>C

1 paper

NM_001128148.3

p.C89S

c.265T>A

1 paper

NM_001128148.3

p.Y88*

c.264T>A