Varaico: Literature-Extracted Genetic Variants

Gene:FRG2C
Variant:p.D252E

FRG2C

75 papers

Pfam Domains

FRG2aa 60–241UCSCFacioscapulohumeral muscular dystrophy candidate 2

Gene Aliases

HGNC Name

FSHD region gene 2 family member C

HGNC Previous Name

FSHD region gene 2 family, member C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001124759.5
p.D252E
c.756T>A
Surrounding Variants
4 papers
NM_001124759.5
p.D252E
c.756T>G
1 paper
NM_001124759.5
p.T246K
c.737C>A
7 papers
NM_001124759.5
p.A259T
c.775G>A
12 papers
NM_001124759.5
p.P261S
c.781C>T
2 papers
NM_001124759.5
p.T230T
c.690T>C
1 paper
NM_001124759.5
p.D275H
c.823G>C
1 paper
NM_001124759.5
p.A277fs
c.829_830fs
7 papers
NM_001124759.5
p.A277V
c.830C>T
1 paper
NM_001124759.5
p.A277A
c.831T>G
1 paper
NM_001124759.5
p.K278fs
c.832_833fs
7 papers
NM_001124759.5
p.G280R
c.838G>A
7 papers
NM_001124759.5
p.G280R
c.838G>C
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