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.P728insFs

c.2183dupC

Surrounding Variants

1 paper

NM_003227.4

p.F729fs

c.2185_2186fs

6 papers

NM_003227.4

p.R730C

c.2188C>T

1 paper

NM_003227.4

p.D726N

c.2176G>A

1 paper

NM_003227.4

p.I732M

c.2196C>G

1 paper

NM_003227.4

p.P724P

c.2172A>G

1 paper

NM_003227.4

p.S723*

c.2168C>A

5 papers

NM_003227.4

p.G735S

c.2203G>A

1 paper

NM_003227.4

p.Y721fs

c.2161_2162fs

1 paper

NM_003227.4

p.Y721delFs

c.2162delT

6 papers

NM_003227.4

p.T740M

c.2219C>T

2 papers

NM_003227.4

p.A743V

c.2228C>T

1 paper

NM_003227.4

p.A743delFs

c.2227delC