Varaico: Literature-Extracted Genetic Variants

Gene:FRG2B
Variant:p.A47T

FRG2B

64 papers

Pfam Domains

FRG2aa 60–241UCSCFacioscapulohumeral muscular dystrophy candidate 2

Gene Aliases

HGNC Name

FSHD region gene 2 family member B

HGNC Previous Name

FSHD region gene 2 family, member B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080998.2
p.A47T
c.139G>A
Surrounding Variants
1 paper
NM_001080998.2
p.K43_G44delFs
c.129_130delCT
1 paper
NM_001080998.2
p.G44fs
c.130_131fs
1 paper
NM_001080998.2
p.S51T
c.151T>A
1 paper
NM_001080998.2
p.E42fs
c.124_125fs
3 papers
NM_001080998.2
p.E42G
c.125A>G
1 paper
NM_001080998.2
p.K41insFs
c.123dupA
1 paper
NM_001080998.2
p.E42K
c.124G>A
1 paper
NM_001080998.2
p.I56T
c.167T>C
6 papers
NM_001080998.2
p.T30S
c.88A>T
1 paper
NM_001080998.2
p.Q26H
c.78G>T
1 paper
NM_001080998.2
p.Q26H
c.78G>C
1 paper
NM_001080998.2
p.P23T
c.67C>A
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