Varaico: Literature-Extracted Genetic Variants

Gene:FRRS1
Variant:p.Y129N

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
Selected Variant
1 paper
NM_001361041.2
p.Y129N
c.385T>A
Surrounding Variants
1 paper
NM_001361041.2
p.E125D
c.375A>T
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.S135I
c.404G>T
1 paper
NM_001361041.2
p.V115V
c.345G>C
1 paper
NM_001361041.2
p.K149N
c.447G>T
1 paper
NM_001361041.2
p.K149N
c.447G>C
1 paper
NM_001361041.2
p.Y150F
c.449A>T
1 paper
NM_001361041.2
p.I152N
c.455T>A
1 paper
NM_001361041.2
p.P160L
c.479C>T
1 paper
NM_001361041.2
p.P169A
c.505C>G
1 paper
NM_001361041.2
p.P173L
c.518C>T
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