Varaico: Literature-Extracted Genetic Variants

Gene:FRG1
Variant:p.K211N

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.K211N
c.633G>C
Surrounding Variants
1 paper
NM_004477.3
p.K212_F213insFs
c.636_637insA
1 paper
NM_004477.3
p.K211N
c.633G>T
4 papers
NM_004477.3
p.K212del1
c.634_635delAAA
1 paper
NM_004477.3
p.K212fs
c.634_635fs
2 papers
NM_004477.3
p.K211del1
c.631_633delAAG
1 paper
NM_004477.3
p.V210Splc
c.630-2A>T
3 papers
NM_004477.3
p.V210Splc
c.630-4A>G
1 paper
NM_004477.3
p.V210Splc
c.630-6T>C
1 paper
NM_004477.3
p.Q217H
c.651A>C
1 paper
NM_004477.3
p.Q217H
c.651A>T
1 paper
NM_004477.3
p.V210Splc
c.630-18A>T
3 papers
NM_004477.3
p.D218E
c.654C>A
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