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.D129N

c.385G>A

Surrounding Variants

2 papers

NM_003227.4

p.D127E

c.381C>G

2 papers

NM_003227.4

p.D127E

c.381C>A

1 paper

NM_003227.4

p.E125A

c.374A>C

1 paper

NM_003227.4

p.R134insFs

c.401_402dupGA

2 papers

NM_003227.4

p.L135R

c.404T>G

1 paper

NM_003227.4

p.H131_L135delFs

c.391_403del13

1 paper

NM_003227.4

p.L135fs

c.403_404fs

1 paper

NM_003227.4

p.L135_Y136delFs

c.405_406delAG

1 paper

NM_003227.4

p.Y136fs

c.406_407fs

1 paper

NM_003227.4

p.Y136*

c.408C>A

1 paper

NM_003227.4

p.W137*

c.410G>A

1 paper

NM_003227.4

p.W137*

c.411G>A