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.A777V

c.2330C>T

Surrounding Variants

1 paper

NM_003227.4

p.R773_Q775Fs

c.2318_2324delinsTGGAAACGFs

1 paper

NM_003227.4

p.R774C

c.2320C>T

1 paper

NM_003227.4

p.R773fs

c.2317_2318fs

9 papers

NM_003227.4

p.W781*

c.2342G>A

10 papers

NM_003227.4

p.W781*

c.2343G>A

1 paper

NM_001206855.3

p.R602W

c.1804C>T

1 paper

NM_003227.4

p.G766S

c.2296G>A

18 papers

NM_003227.4

p.G792R

c.2374G>C

19 papers

NM_003227.4

p.G792R

c.2374G>A

1 paper

NM_003227.4

p.A761fs

c.2281_2282fs

1 paper

NM_003227.4

p.A761insFs

c.2281dupG

1 paper

NM_003227.4

p.D793delFs

c.2377delC