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.N240D

c.718A>G

Surrounding Variants

28 papers

NM_003227.4

p.I238M

c.714C>G

1 paper

NM_003227.4

p.T242_G243Splc

c.726+1G>A

1 paper

NM_003227.4

p.D230delFs

c.689_690delGT

1 paper

NM_003227.4

p.D230fs

c.688_689fs

1 paper

NM_003227.4

p.D230V

c.689A>T

2 papers

NM_003227.4

p.E227K

c.679G>A

1 paper

NM_003227.4

p.L224R

c.671T>G

1 paper

NM_003227.4

p.G221*

c.661G>T

1 paper

NM_003227.4

p.K219fs

c.655_656fs

1 paper

NM_003227.4

p.A217delFs

c.651delG

1 paper

NM_003227.4

p.T242_G243Splc

c.727-24G>C

2 papers

NM_003227.4

p.H207_P208delFs

c.621_624del4