Varaico: Literature-Extracted Genetic Variants

Gene:FRRS1

FRRS1

49 papers

RefSeq Summary

Members of the cytochrome b561 (CYB561; MIM 600019) family, including FRRS1, reduce ferric to ferrous iron before its transport from the endosome to the cytoplasm (Vargas et al., 2003 [PubMed 14499595...

Pfam Domains

Reeleraa 30–169UCSCReeler domain
DOMONaa 214–331UCSCDOMON domain

Gene Aliases

HGNC Name

ferric chelate reductase 1

HGNC Previous Symbol

SDFR2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
1 paper
NM_001361041.2
p.G9R
c.25G>C
1 paper
NM_001361041.2
p.V20M
c.58G>A
1 paper
NM_001361041.2
p.M35V
c.103A>G
1 paper
NM_001361041.2
p.V66Splc
c.196+5C>T
1 paper
NM_001361041.2
p.A80V
c.239C>T
1 paper
NM_001361041.2
p.P89S
c.265C>T
1 paper
NM_001361041.2
p.V115V
c.345G>C
1 paper
NM_001361041.2
p.T124fs
c.370_371fs
1 paper
NM_001361041.2
p.T124fs
c.370_371fs
1 paper
NM_001361041.2
p.E125D
c.375A>T
1 paper
NM_001361041.2
p.Y129N
c.385T>A
1 paper
NM_001361041.2
p.S135I
c.404G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."