Varaico: Literature-Extracted Genetic Variants

Gene:FRG2B
Variant:p.D142G

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
6 papers
NM_001080998.2
p.D142G
c.425A>G
Surrounding Variants
1 paper
NM_001080998.2
p.G147E
c.440G>A
8 papers
NM_001080998.2
p.P131A
c.391C>G
1 paper
NM_001080998.2
p.S129_T130del2
c.385_389del6
1 paper
NM_001080998.2
p.G154fs
c.460_461fs
2 papers
NM_001080998.2
p.R155C
c.463C>T
6 papers
NM_001080998.2
p.R158Q
c.473G>A
2 papers
NM_001080998.2
p.R160fs
c.478_479fs
1 paper
NM_001080998.2
p.R160M
c.479G>T
1 paper
NM_001080998.2
p.R160K
c.479G>A
4 papers
NM_001080998.2
p.R160fs
c.478_479fs
5 papers
NM_001080998.2
p.R160delFs
c.480delC
5 papers
NM_001080998.2
p.R162Q
c.485G>A
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