Varaico: Literature-Extracted Genetic Variants

Gene:FRG2C
Variant:p.G112Splc

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
1 paper
NM_001124759.5
p.G112Splc
c.334+37G>T
Surrounding Variants
1 paper
NM_001124759.5
p.G112Splc
c.334+34G>T
1 paper
NM_001124759.5
p.G112Splc
c.334+40G>T
1 paper
NM_001124759.5
p.G112Splc
c.334+28G>T
1 paper
NM_001124759.5
p.G112Splc
c.334+25T>G
13 papers
NM_001124759.5
p.D109Y
c.325G>T
14 papers
NM_001124759.5
p.I106S
c.317T>G
2 papers
NM_001124759.5
p.R97R
c.291G>A
1 paper
NM_001124759.5
p.N95fs
c.283_284fs
13 papers
NM_001124759.5
p.Q93R
c.278A>G
1 paper
NM_001124759.5
p.N95_R99delFs
c.285_295del11
1 paper
NM_001124759.5
p.Y92C
c.275A>G
1 paper
NM_001124759.5
p.P87A
c.259C>G
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