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.K283_V284Splc

c.849+2T>C

Surrounding Variants

1 paper

NM_003227.4

p.K283_V284Splc

c.849+1G>T

8 papers

NM_003227.4

p.F280L

c.840C>G

7 papers

NM_003227.4

p.F280L

c.840C>A

7 papers

NM_003227.4

p.F280L

c.838T>C

1 paper

NM_003227.4

p.V277fs

c.829_830fs

1 paper

NM_003227.4

p.V277insFs

c.829dupG

5 papers

NM_003227.4

p.V277L

c.829G>T

6 papers

NM_003227.4

p.V277L

c.829G>C

1 paper

NM_003227.4

p.V277M

c.829G>A

1 paper

NM_003227.4

p.V275M

c.823G>A

1 paper

NM_003227.4

p.R269insFs

c.806_807insA

1 paper

NM_003227.4

p.L256R

c.767T>G