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.R65fs

c.193_194fs

Surrounding Variants

1 paper

NM_003227.4

p.R65delFs

c.193delT

5 papers

NM_003227.4

p.R65*

c.193A>T

1 paper

NM_003227.4

p.S64delFs

c.192delA

1 paper

NM_003227.4

p.G63_P66del4

c.187_197del12

1 paper

NM_003227.4

p.S64P

c.190T>C

1 paper

NM_003227.4

p.S64T

c.190T>A

1 paper

NM_003227.4

p.P66_R67del2

c.196_200del6

1 paper

NM_003227.4

p.L62fs

c.184_185fs

1 paper

NM_003227.4

p.P61A

c.181C>G

2 papers

NM_003227.4

p.E60del1

c.178_179delCTC

1 paper

NM_003227.4

p.P61_L71delFs

c.183_211del29

47 papers

NM_003227.4

p.E60*

c.178G>T