Varaico: Literature-Extracted Genetic Variants

Gene:FRG2B
Variant:p.W194L

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.W194L
c.581G>T
Surrounding Variants
1 paper
NM_001080998.2
p.V193V
c.579G>A
1 paper
NM_001080998.2
p.L202I
c.604C>A
1 paper
NM_001080998.2
p.L202L
c.606T>G
1 paper
NM_001080998.2
p.A185T
c.553G>A
1 paper
NM_001080998.2
p.E184E
c.552G>A
1 paper
NM_001080998.2
p.L210L
c.630C>T
1 paper
NM_001080998.2
p.L213I
c.637C>A
6 papers
NM_001080998.2
p.I171L
c.511A>C
1 paper
NM_001080998.2
p.V166D
c.497T>A
1 paper
NM_001080998.2
p.T223I
c.668C>T
2 papers
NM_001080998.2
p.A163A
c.489C>T
5 papers
NM_001080998.2
p.R162Q
c.485G>A
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