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.T670delFs

c.2008_2009delGT

Surrounding Variants

1 paper

NM_003227.4

p.T670fs

c.2008_2009fs

6 papers

NM_003227.4

p.Q672*

c.2014C>T

1 paper

NM_003227.4

p.G668V

c.2003G>T

1 paper

NM_003227.4

p.W673*

c.2018G>A

1 paper

NM_003227.4

p.W673*

c.2019G>A

1 paper

NM_003227.4

p.V674G

c.2021T>G

1 paper

NM_003227.4

p.Y675*

c.2025C>G

1 paper

NM_003227.4

p.Y675*

c.2025C>A

3 papers

NM_003227.4

p.K665_A666Splc

c.1996-2A>C

1 paper

NM_003227.4

p.R678G

c.2032C>G

7 papers

NM_003227.4

p.R678P

c.2033G>C

1 paper

NM_003227.4

p.G679A

c.2036G>C