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.G149delFs

c.445delC

Surrounding Variants

1 paper

NM_003227.4

p.E150fs

c.448_449fs

1 paper

NM_003227.4

p.G151R

c.451G>C

1 paper

NM_003227.4

p.G151R

c.451G>A

1 paper

NM_003227.4

p.G149G

c.447G>A

1 paper

NM_003227.4

p.G151V

c.452G>T

1 paper

NM_003227.4

p.L148insFs

c.443dupT

1 paper

NM_003227.4

p.L153P

c.458T>C

1 paper

NM_003227.4

p.E154*

c.460G>T

1 paper

NM_003227.4

p.Q146E

c.436C>G

1 paper

NM_003227.4

p.Q146K

c.436C>A

1 paper

NM_003227.4

p.I157delFs

c.471delG

1 paper

NM_003227.4

p.R158T

c.473G>C