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.E42delFs

c.124delC

Surrounding Variants

1 paper

NM_003227.4

p.E42fs

c.124_125fs

1 paper

NM_003227.4

p.E42_E43delFs

c.126_127delCC

1 paper

NM_003227.4

p.A45T

c.133G>A

1 paper

NM_003227.4

p.E39E

c.117A>G

1 paper

NM_003227.4

p.E37_E38insFs

c.111_112insCA

1 paper

NM_003227.4

p.H50R

c.149A>G

3 papers

NM_003227.4

p.F51F

c.153C>T

7 papers

NM_003227.4

p.H33N

c.97C>A

1 paper

NM_003227.4

p.G32delFs

c.95delC

1 paper

NM_003227.4

p.G32fs

c.94_95fs

1 paper

NM_003227.4

p.R30fs

c.88_89fs

1 paper

NM_003227.4

p.M54L

c.160A>T