Varaico: Literature-Extracted Genetic Variants

Gene:FRG2B

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
1–12 of 74 variants
8 papers
NM_001080998.2
p.P131A
c.391C>G
6 papers
NM_001080998.2
p.T30S
c.88A>T
6 papers
NM_001080998.2
p.D142G
c.425A>G
6 papers
NM_001080998.2
p.R158Q
c.473G>A
6 papers
NM_001080998.2
p.I171L
c.511A>C
5 papers
NM_001080998.2
p.R160delFs
c.480delC
5 papers
NM_001080998.2
p.R162Q
c.485G>A
4 papers
NM_001080998.2
p.H11Q
c.33C>G
4 papers
NM_001080998.2
p.H11Q
c.33C>A
4 papers
NM_001080998.2
p.S121T
c.361T>A
4 papers
NM_001080998.2
p.R160fs
c.478_479fs
3 papers
NM_001080998.2
p.E42G
c.125A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."