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

2 papers

NM_003227.4

p.V22F

c.64G>T

Surrounding Variants

14 papers

NM_003227.4

p.V22I

c.64G>A

1 paper

NM_003227.4

p.T21delFs

c.63delG

1 paper

NM_003227.4

p.V22fs

c.64_65fs

1 paper

NM_003227.4

p.T21_V22delFs

c.63_66del4

1 paper

NM_003227.4

p.V22_Y23delFs

c.66_67delAG

1 paper

NM_003227.4

p.Y23fs

c.67_68fs

1 paper

NM_003227.4

p.Q20*

c.58C>T

2 papers

NM_003227.4

p.L14_S19delFs

c.42_57del16

1 paper

NM_003227.4

p.R25delFs

c.73delG

1 paper

NM_003227.4

p.R25fs

c.73_74fs

1 paper

NM_003227.4

p.S15C

c.44C>G

3 papers

NM_003227.4

p.R30fs

c.88_89fs