Varaico: Literature-Extracted Genetic Variants

Gene:FRG1

FRG1

159 papers

RefSeq Summary

This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has relate...

Pfam Domains

FRG1aa 67–256UCSCFRG1-like domain

Gene Aliases

HGNC Name

FSHD region gene 1

HGNC Alias Symbols

FSG1; FRG1A

Papers
RefSeq ID
Protein change
DNA change
1–12 of 163 variants
13 papers
NM_004477.3
p.G123E
c.368G>A
10 papers
NM_004477.3
p.N153D
c.457A>G
10 papers
NM_004477.3
p.R235Q
c.704G>A
9 papers
NM_004477.3
p.V202I
c.604G>A
7 papers
NM_004477.3
p.S26N
c.77G>A
7 papers
NM_004477.3
p.P91S
c.271C>T
7 papers
NM_004477.3
p.T98S
c.292A>T
7 papers
NM_004477.3
p.R128C
c.382C>T
7 papers
NM_004477.3
p.G163E
c.488G>A
7 papers
NM_004477.3
p.K190E
c.568A>G
6 papers
NM_004477.3
p.T98M
c.293C>T
6 papers
NM_004477.3
p.R106S
c.318A>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."