Varaico: Literature-Extracted Genetic Variants

Gene:IFFO1
Variant:p.P552L

IFFO1

33 papers

RefSeq Summary

This gene is a member of the intermediate filament family. Intermediate filaments are proteins which are primordial components of the cytoskeleton and nuclear envelope. The proteins encoded by the mem...

Gene Aliases

HGNC Name

intermediate filament family orphan 1

HGNC Alias Symbol

HOM-TES-103

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001193457.2
p.P552L
c.1655C>T
Surrounding Variants
1 paper
NM_001193457.2
p.P554S
c.1660C>T
1 paper
NM_001193457.2
p.P550L
c.1649C>T
1 paper
NM_001193457.2
p.E556K
c.1666G>A
2 papers
NM_001193457.2
p.A544V
c.1631C>T
1 paper
NM_001193457.2
p.D561N
c.1681G>A
1 paper
NM_001193457.2
p.R562C
c.1684C>T
1 paper
NM_001193457.2
p.P540L
c.1619C>T
1 paper
NM_001193457.2
p.M570R
c.1709T>G
1 paper
NM_001193457.2
p.L530P
c.1589T>C
1 paper
NM_001193457.2
p.M516R
c.1547T>G
1 paper
NM_001193457.2
p.E493_L494Splc
c.1480-1447C>T
1 paper
NM_001193457.2
p.T488P
c.1462A>C
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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."