Varaico: Literature-Extracted Genetic Variants

Gene:FRG2C
Variant:p.P170P

FRG2C

75 papers

Pfam Domains

FRG2aa 60–241UCSCFacioscapulohumeral muscular dystrophy candidate 2

Gene Aliases

HGNC Name

FSHD region gene 2 family member C

HGNC Previous Name

FSHD region gene 2 family, member C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001124759.5
p.P170P
c.510G>A
Surrounding Variants
1 paper
NM_001124759.5
p.P170L
c.509C>T
8 papers
NM_001124759.5
p.V167D
c.500T>A
1 paper
NM_001124759.5
p.V167delins
c.499_500delinsTA
14 papers
NM_001124759.5
p.E166G
c.497A>G
1 paper
NM_001124759.5
p.L176V
c.526T>G
1 paper
NM_001124759.5
p.A164A
c.492C>T
9 papers
NM_001124759.5
p.R163Q
c.488G>A
1 paper
NM_001124759.5
p.R163_A164delins
c.488_492delinsAGGCT
4 papers
NM_001124759.5
p.R161K
c.482G>A
6 papers
NM_001124759.5
p.R161fs
c.481_482fs
8 papers
NM_001124759.5
p.R161delFs
c.483delG
3 papers
NM_001124759.5
p.R161fs
c.481_482fs
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