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.R678G

c.2032C>G

Surrounding Variants

7 papers

NM_003227.4

p.R678P

c.2033G>C

1 paper

NM_003227.4

p.G679A

c.2036G>C

4 papers

NM_003227.4

p.D680Y

c.2038G>T

1 paper

NM_003227.4

p.D680fs

c.2038_2039fs

1 paper

NM_003227.4

p.Y675*

c.2025C>G

1 paper

NM_003227.4

p.Y675*

c.2025C>A

2 papers

NM_003227.4

p.D680insFs

c.2039_2040insG

1 paper

NM_003227.4

p.D680fs

c.2038_2039fs

1 paper

NM_003227.4

p.V674G

c.2021T>G

1 paper

NM_003227.4

p.W673*

c.2019G>A

1 paper

NM_003227.4

p.W673*

c.2018G>A

6 papers

NM_003227.4

p.Q672*

c.2014C>T