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.I710_M711delFs

c.2128_2132del5

Surrounding Variants

1 paper

NM_003227.4

p.I710fs

c.2128_2129fs

1 paper

NM_003227.4

p.R712_V713Splc

c.2136+1G>C

2 papers

NM_003227.4

p.R712_V713Splc

c.2136+1G>A

1 paper

NM_003227.4

p.R712_V713Splc

c.2136+2T>A

1 paper

NM_003227.4

p.V708E

c.2123T>A

1 paper

NM_003227.4

p.M705R

c.2114T>G

2 papers

NM_003227.4

p.M705fs

c.2113_2114fs

1 paper

NM_003227.4

p.R704insFs

c.2112dupC

3 papers

NM_003227.4

p.R701*

c.2101C>T

1 paper

NM_003227.4

p.D699_E700delFs

c.2096_2100del5

1 paper

NM_003227.4

p.D699fs

c.2095_2096fs

1 paper

NM_003227.4

p.D699delFs

c.2095_2096delTC