Varaico: Literature-Extracted Genetic Variants

Gene:FRA10AC1
Variant:p.S251F

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
3 papers
NM_145246.5
p.S251F
c.752C>T
Surrounding Variants
1 paper
NM_145246.5
p.A253E
c.758C>A
1 paper
NM_145246.5
p.K247fs
c.739_740fs
1 paper
NM_145246.5
p.E255D
c.765G>T
1 paper
NM_145246.5
p.E255D
c.765G>C
1 paper
NM_145246.5
p.K246T
c.737A>C
1 paper
NM_145246.5
p.C240fs
c.718_719fs
1 paper
NM_145246.5
p.E226K
c.676G>A
1 paper
NM_145246.5
p.E190K
c.568G>A
2 papers
NM_145246.5
p.S188fs
c.562_563fs
4 papers
NM_145246.5
p.K187_S188insFs
c.561_562ins4
1 paper
NM_145246.5
p.E184Q
c.550G>C
1 paper
NM_145246.5
p.G171S
c.511G>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."