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.G446E

c.1337G>A

Surrounding Variants

1 paper

NM_003227.4

p.G446R

c.1336G>C

2 papers

NM_003227.4

p.G446R

c.1336G>A

1 paper

NM_003227.4

p.S443insFs

c.1329dupC

10 papers

NM_003227.4

p.A444T

c.1330G>A

2 papers

NM_003227.4

p.I449V

c.1345A>G

1 paper

NM_003227.4

p.V454_R455insFs

c.1362_1363insT

24 papers

NM_003227.4

p.R455Q

c.1364G>A

1 paper

NM_003227.4

p.R455fs

c.1363_1364fs

1 paper

NM_003227.4

p.W436*

c.1308G>A

1 paper

NM_003227.4

p.W436*

c.1307G>A

1 paper

NM_003227.4

p.G430fs

c.1288_1289fs

15 papers

NM_003227.4

p.G430R

c.1288G>C