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

24 papers

NM_003227.4

p.L490R

c.1469T>G

Surrounding Variants

1 paper

NM_003227.4

p.W489_L490delins

c.1467_1468delinsAT

1 paper

NM_003227.4

p.W489*

c.1467G>A

1 paper

NM_003227.4

p.L490delFs

c.1470delT

1 paper

NM_003227.4

p.W489*

c.1466G>A

1 paper

NM_003227.4

p.E491fs

c.1471_1472fs

8 papers

NM_003227.4

p.E491E

c.1473G>A

1 paper

NM_003227.4

p.E491_G492Splc

c.1473+1G>A

3 papers

NM_003227.4

p.S470I

c.1409G>T

1 paper

NM_003227.4

p.R468fs

c.1402_1403fs

11 papers

NM_003227.4

p.R468H

c.1403G>A

1 paper

NM_003227.4

p.R468fs

c.1402_1403fs

2 papers

NM_003227.4

p.R466delFs

c.1398delC