Varaico: Literature-Extracted Genetic Variants

Gene:FRG1
Variant:p.A151T

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
3 papers
NM_004477.3
p.A151T
c.451G>A
Surrounding Variants
4 papers
NM_004477.3
p.L150S
c.449T>C
1 paper
NM_004477.3
p.L149F
c.447G>C
1 paper
NM_004477.3
p.L149F
c.447G>T
10 papers
NM_004477.3
p.N153D
c.457A>G
5 papers
NM_004477.3
p.A148D
c.443C>A
3 papers
NM_004477.3
p.S154G
c.460A>G
6 papers
NM_004477.3
p.A148P
c.442G>C
1 paper
NM_004477.3
p.M147fs
c.439_440fs
3 papers
NM_004477.3
p.M147fs
c.439_440fs
1 paper
NM_004477.3
p.C155R
c.463T>C
2 papers
NM_004477.3
p.G145_K146insFs
c.435_436insA
3 papers
NM_004477.3
p.I157V
c.469A>G
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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."