Varaico: Literature-Extracted Genetic Variants

Gene:FRG2
Variant:p.A47T

FRG2

16 papers

Pfam Domains

FRG2aa 60–241UCSCFacioscapulohumeral muscular dystrophy candidate 2

Gene Aliases

HGNC Name

FSHD region gene 2

HGNC Alias Symbol

FRG2A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001286820.2
p.A47T
c.139G>A
Surrounding Variants
1 paper
NM_001286820.2
p.S52C
c.154A>T
1 paper
NM_001286820.2
p.I56T
c.167T>C
1 paper
NM_001286820.2
p.T19N
c.56C>A
1 paper
NM_001286820.2
p.Q16L
c.47A>T
1 paper
NM_001286820.2
p.S8P
c.22T>C
1 paper
NM_001286820.2
p.M1_G2insFs
c.3_4insA
1 paper
NM_001286820.2
p.A60Splc
c.179-7C>T
1 paper
NM_001286820.2
p.S62W
c.185C>G
1 paper
NM_001286820.2
p.S62*
c.185C>A
1 paper
NM_001286820.2
p.E94K
c.280G>A
1 paper
NM_001286820.2
p.S106R
c.316A>C
1 paper
NM_001286820.2
p.S106R
c.318C>G
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