Varaico: Literature-Extracted Genetic Variants

TFR2

361 papers

RefSeq Summary

This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involve...

Pfam Domains

PAaa 241–328UCSCPA domain

Peptidase_M28aa 412–624UCSCPeptidase family M28

Gene Aliases

HGNC Name

transferrin receptor 2

HGNC Alias Symbols

HFE3; TFRC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003227.4

p.L175delFs

c.523_524delAG

Surrounding Variants

1 paper

NM_003227.4

p.L175_T176insFs

c.525_526ins7

1 paper

NM_003227.4

p.L175fs

c.523_524fs

1 paper

NM_003227.4

p.L175fs

c.523_524fs

1 paper

NM_003227.4

p.Q177*

c.529C>T

1 paper

NM_003227.4

p.A174V

c.521C>T

58 papers

NM_003227.4

p.M172K

c.515T>A

1 paper

NM_003227.4

p.G171V

c.512G>T

1 paper

NM_003227.4

p.R180S

c.538C>A

1 paper

NM_003227.4

p.A182E

c.545C>A

1 paper

NM_003227.4

p.S184F

c.551C>T

2 papers

NM_003227.4

p.V166delFs

c.497delA

1 paper

NM_003227.4

p.V166delFs

c.496delC