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.D204N

c.610G>A

Surrounding Variants

1 paper

NM_001128148.3

p.I202M

c.606A>G

1 paper

NM_001128148.3

p.I201S

c.602T>G

1 paper

NM_001128148.3

p.S199_V200delFs

c.597_598delCC

1 paper

NM_001128148.3

p.N198_S199delFs

c.594_597del4

2 papers

NM_001128148.3

p.R208G

c.622A>G

1 paper

NM_001128148.3

p.R208K

c.623G>A

1 paper

NM_001128148.3

p.S199A

c.595T>G

1 paper

NM_001128148.3

p.G207_R208delFs

c.621_624del4

1 paper

NM_001128148.3

p.L209P

c.626T>C

1 paper

NM_001128148.3

p.V210D

c.629T>A

1 paper

NM_001128148.3

p.Q197Q

c.591A>G

1 paper

NM_001128148.3

p.A196delFs

c.587_588delAG