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.T88_A89insC

c.262_266ins3

Surrounding Variants

1 paper

NM_003227.4

p.T88A

c.262A>G

1 paper

NM_003227.4

p.T88M

c.263C>T

1 paper

NM_003227.4

p.L85fs

c.253_254fs

1 paper

NM_003227.4

p.L85delFs

c.253delG

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.G95R

c.283G>C

1 paper

NM_003227.4

p.G95R

c.283G>A

1 paper

NM_003227.4

p.R80K

c.239G>A

1 paper

NM_003227.4

p.A96Splc

c.286+1G>T

1 paper

NM_003227.4

p.A96Splc

c.286+2T>C

1 paper

NM_003227.4

p.G78E

c.233G>A