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

2 papers

NM_001128148.3

p.R6S

c.18A>C

Surrounding Variants

2 papers

NM_001128148.3

p.R6S

c.18A>T

1 paper

NM_001128148.3

p.M1_A5del5

c.1_14del15

1 paper

NM_001128148.3

p.S7insFs

c.19dupT

1 paper

NM_001128148.3

p.S7S

c.21A>T

1 paper

NM_001128148.3

p.A8T

c.22G>A

3 papers

NM_001128148.3

p.A5G

c.14C>G

1 paper

NM_001128148.3

p.A5P

c.13G>C

1 paper

NM_001128148.3

p.A5T

c.13G>A

1 paper

NM_001128148.3

p.A8A

c.24A>G

1 paper

NM_001128148.3

p.Q4L

c.11A>T

1 paper

NM_001128148.3

p.F9Y

c.26T>A

1 paper

NM_001128148.3

p.Q4fs

c.10_11fs