Varaico: Literature-Extracted Genetic Variants

Gene:FRG1
Variant:p.G163E

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
7 papers
NM_004477.3
p.G163E
c.488G>A
Surrounding Variants
1 paper
NM_004477.3
p.A162T
c.484G>A
1 paper
NM_004477.3
p.N160_E166delins
c.480_498delinsT
6 papers
NM_004477.3
p.N160S
c.479A>G
1 paper
NM_004477.3
p.N160_E166delins
c.479_498delinsGT
2 papers
NM_004477.3
p.C159C
c.477C>T
5 papers
NM_004477.3
p.C159Y
c.476G>A
1 paper
NM_004477.3
p.R158S
c.474A>C
1 paper
NM_004477.3
p.R158S
c.474A>T
1 paper
NM_004477.3
p.K168*
c.502A>T
2 papers
NM_004477.3
p.S169G
c.505A>G
3 papers
NM_004477.3
p.S169N
c.506G>A
3 papers
NM_004477.3
p.I157V
c.469A>G
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