Varaico: Literature-Extracted Genetic Variants

Gene:FRA10AC1
Variant:p.M1K

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
1 paper
NM_145246.5
p.M1K
c.2T>A
Surrounding Variants
1 paper
NM_145246.5
p.M1R
c.2T>G
1 paper
NM_145246.5
p.S12C
c.34A>T
7 papers
NM_145246.5
p.R16H
c.47G>A
1 paper
NM_145246.5
p.G18*
c.52G>T
1 paper
NM_145246.5
p.K22R
c.65A>G
1 paper
NM_145246.5
p.R23fs
c.67_68fs
1 paper
NM_145246.5
p.K25N
c.75A>T
1 paper
NM_145246.5
p.K25N
c.75A>C
1 paper
NM_145246.5
p.R26Splc
c.77+1G>A
1 paper
NM_145246.5
p.R26Splc
c.77+68C>T
2 papers
NM_145246.5
p.D30D
c.90T>C
1 paper
NM_145246.5
p.A47A
c.141C>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."