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.A96Splc

c.287-2A>T

Surrounding Variants

2 papers

NM_003227.4

p.A96Splc

c.287-2A>G

1 paper

NM_003227.4

p.A96T

c.286G>A

1 paper

NM_003227.4

p.A96Splc

c.287-3C>G

3 papers

NM_003227.4

p.L99V

c.295C>G

1 paper

NM_003227.4

p.Y101Y

c.303C>T

1 paper

NM_003227.4

p.Y101*

c.303C>G

1 paper

NM_003227.4

p.Y101*

c.303C>A

1 paper

NM_003227.4

p.A103T

c.307G>A

19 papers

NM_003227.4

p.R105*

c.313C>T

1 paper

NM_003227.4

p.R105G

c.313C>G

2 papers

NM_003227.4

p.R105del1

c.313_314delTCG

1 paper

NM_003227.4

p.G106delFs

c.318delC