Varaico: Literature-Extracted Genetic Variants

Gene:FRG1
Variant:p.R106Splc

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
1 paper
NM_004477.3
p.R106Splc
c.317+35T>G
Surrounding Variants
1 paper
NM_004477.3
p.R106Splc
c.317+36A>T
1 paper
NM_004477.3
p.R106Splc
c.317+10T>A
6 papers
NM_004477.3
p.R106S
c.318A>C
6 papers
NM_004477.3
p.R106S
c.318A>T
5 papers
NM_004477.3
p.R106Splc
c.317+1G>T
2 papers
NM_004477.3
p.L102F
c.306A>C
2 papers
NM_004477.3
p.L102F
c.306A>T
6 papers
NM_004477.3
p.T98M
c.293C>T
7 papers
NM_004477.3
p.T98S
c.292A>T
4 papers
NM_004477.3
p.P94T
c.280C>A
1 paper
NM_004477.3
p.P93P
c.279T>A
5 papers
NM_004477.3
p.P93A
c.277C>G
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