Varaico: Literature-Extracted Genetic Variants

Gene:FRG2B
Variant:p.H11Q

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
4 papers
NM_001080998.2
p.H11Q
c.33C>A
Surrounding Variants
4 papers
NM_001080998.2
p.H11Q
c.33C>G
1 paper
NM_001080998.2
p.H11delins
c.31_33delinsTAG
2 papers
NM_001080998.2
p.H11Y
c.31C>T
2 papers
NM_001080998.2
p.D9N
c.25G>A
1 paper
NM_001080998.2
p.S14Y
c.41C>A
1 paper
NM_001080998.2
p.I15V
c.43A>G
2 papers
NM_001080998.2
p.I15N
c.44T>A
2 papers
NM_001080998.2
p.D7E
c.21C>G
2 papers
NM_001080998.2
p.D7E
c.21C>A
1 paper
NM_001080998.2
p.Q16L
c.47A>T
1 paper
NM_001080998.2
p.Q16H
c.48G>T
1 paper
NM_001080998.2
p.Q16H
c.48G>C
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