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.Y693*

c.2079C>G

Surrounding Variants

1 paper

NM_003227.4

p.Y693*

c.2079C>A

1 paper

NM_003227.4

p.I692T

c.2075T>C

1 paper

NM_003227.4

p.S695*

c.2084C>A

5 papers

NM_003227.4

p.S695S

c.2085G>C

1 paper

NM_003227.4

p.R689_Q690del2

c.2065_2069del6

28 papers

NM_003227.4

p.Q690P

c.2069A>C

2 papers

NM_003227.4

p.R698*

c.2092A>T

1 paper

NM_003227.4

p.R698fs

c.2092_2093fs

1 paper

NM_003227.4

p.E697_D699insFs

c.2089_2095dup7

1 paper

NM_003227.4

p.D699fs

c.2095_2096fs

1 paper

NM_003227.4

p.D699delFs

c.2095_2096delTC

1 paper

NM_003227.4

p.R698_D699delFs

c.2093_2096del4