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

17 papers

NM_003227.4

p.A75V

c.224C>T

Surrounding Variants

1 paper

NM_003227.4

p.W74fs

c.220_221fs

1 paper

NM_003227.4

p.P73delFs

c.219delG

1 paper

NM_003227.4

p.A77E

c.230C>A

1 paper

NM_003227.4

p.G78E

c.233G>A

1 paper

NM_003227.4

p.P61_L71delFs

c.183_211del29

1 paper

NM_003227.4

p.R80K

c.239G>A

1 paper

NM_003227.4

p.P66_R67del2

c.196_200del6

1 paper

NM_003227.4

p.G63_P66del4

c.187_197del12

1 paper

NM_003227.4

p.Y84*

c.252C>G

1 paper

NM_003227.4

p.Y84*

c.252C>A

1 paper

NM_003227.4

p.R65fs

c.193_194fs

1 paper

NM_003227.4

p.L85delFs

c.253delG