Varaico: Literature-Extracted Genetic Variants

Gene:FRG2C
Variant:p.N120S

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
15 papers
NM_001124759.5
p.N120S
c.359A>G
Surrounding Variants
2 papers
NM_001124759.5
p.T122T
c.366G>T
1 paper
NM_001124759.5
p.S129_S130del2
c.385_389del6
2 papers
NM_001124759.5
p.G112Splc
c.335-4G>A
1 paper
NM_001124759.5
p.G112Splc
c.335-15A>C
1 paper
NM_001124759.5
p.G112Splc
c.335-30T>G
1 paper
NM_001124759.5
p.Q139K
c.415C>A
1 paper
NM_001124759.5
p.T141I
c.422C>T
10 papers
NM_001124759.5
p.D143G
c.428A>G
10 papers
NM_001124759.5
p.S149R
c.445A>C
10 papers
NM_001124759.5
p.S149R
c.447T>A
10 papers
NM_001124759.5
p.S149R
c.447T>G
8 papers
NM_001124759.5
p.G155delFs
c.465delG
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