Varaico: Literature-Extracted Genetic Variants

Gene:FRG1
Variant:p.G123E

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
Selected Variant
13 papers
NM_004477.3
p.G123E
c.368G>A
Surrounding Variants
1 paper
NM_004477.3
p.G127W
c.379G>T
7 papers
NM_004477.3
p.R128C
c.382C>T
3 papers
NM_004477.3
p.R128H
c.383G>A
1 paper
NM_004477.3
p.L117fs
c.349_350fs
6 papers
NM_004477.3
p.D130V
c.389A>T
1 paper
NM_004477.3
p.A131P
c.391G>C
4 papers
NM_004477.3
p.I132V
c.394A>G
3 papers
NM_004477.3
p.I132T
c.395T>C
5 papers
NM_004477.3
p.G133E
c.398G>A
1 paper
NM_004477.3
p.G112G
c.336C>G
1 paper
NM_004477.3
p.R135*
c.403A>T
4 papers
NM_004477.3
p.R135K
c.404G>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."