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.A102insFs

c.305dupC

Surrounding Variants

1 paper

NM_001128148.3

p.G103R

c.307G>C

1 paper

NM_001128148.3

p.G103R

c.307G>A

1 paper

NM_001128148.3

p.G103E

c.308G>A

3 papers

NM_001128148.3

p.L101P

c.302T>C

5 papers

NM_001128148.3

p.T104A

c.310A>G

NM_001313965.2

p.T23A

c.67A>G

1 paper

NM_001128148.3

p.T104I

c.311C>T

1 paper

NM_001128148.3

p.L101L

c.301C>T

1 paper

NM_001128148.3

p.T104N

c.311C>A

2 papers

NM_001128148.3

p.T104T

c.312C>T

2 papers

NM_001128148.3

p.R100R

c.300A>G

1 paper

NM_001128148.3

p.E105K

c.313G>A

1 paper

NM_001128148.3

p.R100G

c.298A>G