Varaico: Literature-Extracted Genetic Variants

Gene:FRG2C
Variant:p.T230T

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
2 papers
NM_001124759.5
p.T230T
c.690T>C
Surrounding Variants
1 paper
NM_001124759.5
p.L225L
c.673T>C
1 paper
NM_001124759.5
p.T246K
c.737C>A
1 paper
NM_001124759.5
p.R213R
c.637C>A
2 papers
NM_001124759.5
p.L211L
c.633C>T
11 papers
NM_001124759.5
p.L210M
c.628C>A
4 papers
NM_001124759.5
p.D252E
c.756T>A
4 papers
NM_001124759.5
p.D252E
c.756T>G
1 paper
NM_001124759.5
p.T204I
c.611C>T
12 papers
NM_001124759.5
p.L203M
c.607C>A
7 papers
NM_001124759.5
p.A259T
c.775G>A
1 paper
NM_001124759.5
p.P202T
c.604C>A
1 paper
NM_001124759.5
p.P202S
c.604C>T
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