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

1 paper

NM_003227.4

p.G32fs

c.94_95fs

Surrounding Variants

7 papers

NM_003227.4

p.H33N

c.97C>A

1 paper

NM_003227.4

p.G32delFs

c.95delC

1 paper

NM_003227.4

p.R30fs

c.88_89fs

7 papers

NM_003227.4

p.R30insFs

c.88_89insC

3 papers

NM_003227.4

p.R30fs

c.88_89fs

1 paper

NM_003227.4

p.E37_E38insFs

c.111_112insCA

1 paper

NM_003227.4

p.R25fs

c.73_74fs

1 paper

NM_003227.4

p.R25delFs

c.73delG

1 paper

NM_003227.4

p.E39E

c.117A>G

1 paper

NM_003227.4

p.Y23fs

c.67_68fs

1 paper

NM_003227.4

p.V22_Y23delFs

c.66_67delAG

1 paper

NM_003227.4

p.T21_V22delFs

c.63_66del4