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.D184delFs

c.551delT

Surrounding Variants

1 paper

NM_001128148.3

p.R183L

c.548G>T

1 paper

NM_001128148.3

p.R183H

c.548G>A

1 paper

NM_001128148.3

p.W182R

c.544T>C

1 paper

NM_001128148.3

p.V181I

c.541G>A

2 papers

NM_001128148.3

p.S179N

c.536G>A

1 paper

NM_001128148.3

p.I190insFs

c.569_570insA

1 paper

NM_001128148.3

p.Q191E

c.571C>G

1 paper

NM_001128148.3

p.Q191P

c.572A>C

10 papers

NM_001128148.3

p.D194N

c.580G>A

1 paper

NM_001128148.3

p.R174H

c.521G>A

1 paper

NM_001128148.3

p.S195insFs

c.584_585insA

1 paper

NM_001128148.3

p.F173L

c.517T>C