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.L750P

c.2249T>C

Surrounding Variants

16 papers

NM_003227.4

p.R752H

c.2255G>A

1 paper

NM_003227.4

p.H747Y

c.2239C>T

1 paper

NM_003227.4

p.D746fs

c.2236_2237fs

1 paper

NM_003227.4

p.D746insFs

c.2236dupG

4 papers

NM_003227.4

p.L745R

c.2234T>G

1 paper

NM_003227.4

p.S756F

c.2267C>T

1 paper

NM_003227.4

p.S753_S756del4

c.2257_2267del12

1 paper

NM_003227.4

p.A743fs

c.2227_2228fs

1 paper

NM_003227.4

p.A743delFs

c.2227_2228delGC

2 papers

NM_003227.4

p.A743V

c.2228C>T

1 paper

NM_003227.4

p.A743delFs

c.2227delC

1 paper

NM_003227.4

p.G760R

c.2278G>A