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.F13L

c.37T>C

Surrounding Variants

1 paper

NM_001128148.3

p.L12_F13Splc

c.37-1G>T

1 paper

NM_001128148.3

p.F13L

c.39T>G

1 paper

NM_001128148.3

p.F13L

c.39T>A

4 papers

NM_001128148.3

p.G14A

c.41G>C

1 paper

NM_001128148.3

p.G15R

c.43G>A

1 paper

NM_001128148.3

p.P17Q

c.50C>A

1 paper

NM_001128148.3

p.S19P

c.55T>C

13 papers

NM_001128148.3

p.Y20H

c.58T>C

2 papers

NM_001128148.3

p.Y20C

c.59A>G

3 papers

NM_001128148.3

p.G14_S19delFs

c.42_57del16

1 paper

NM_001128148.3

p.T21A

c.61A>G

1 paper

NM_001128148.3

p.T21N

c.62C>A