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

1–12 of 473 variants

127 papers

NM_003227.4

p.Y250*

c.750C>G

124 papers

NM_003227.4

p.Y250*

c.750C>A

58 papers

NM_003227.4

p.M172K

c.515T>A

47 papers

NM_003227.4

p.E60*

c.178G>T

28 papers

NM_003227.4

p.I238M

c.714C>G

28 papers

NM_003227.4

p.Q690P

c.2069A>C

24 papers

NM_003227.4

p.R455Q

c.1364G>A

24 papers

NM_003227.4

p.L490R

c.1469T>G

19 papers

NM_003227.4

p.R105*

c.313C>T

19 papers

NM_003227.4

p.G792R

c.2374G>A

18 papers

NM_003227.4

p.G792R

c.2374G>C

17 papers

NM_003227.4

p.A75V

c.224C>T