Varaico: Literature-Extracted Genetic Variants

Gene:FRA10AC1
Variant:p.R110*

FRA10AC1

41 papers

RefSeq Summary

The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expan...

Pfam Domains

Fra10Ac1aa 104–220UCSCFolate-sensitive fragile site protein Fra10Ac1

Gene Aliases

HGNC Name

FRA10A associated CGG repeat 1

HGNC Previous Symbol

C10orf4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_145246.5
p.R110*
c.328C>T
Surrounding Variants
1 paper
NM_145246.5
p.R110Q
c.329G>A
1 paper
NM_145246.5
p.E120V
c.359A>T
1 paper
NM_145246.5
p.E122K
c.364G>A
1 paper
NM_145246.5
p.K155_F156Splc
c.465+1G>A
1 paper
NM_145246.5
p.D83N
c.247G>A
2 papers
NM_145246.5
p.V81I
c.241G>A
3 papers
NM_145246.5
p.T78R
c.233C>G
1 paper
NM_145246.5
p.F156L
c.466T>C
1 paper
NM_145246.5
p.F156L
c.468T>G
1 paper
NM_145246.5
p.F156L
c.468T>A
3 papers
NM_145246.5
p.R161*
c.481C>T
1 paper
NM_145246.5
p.R161Q
c.482G>A
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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."