Varaico: Literature-Extracted Genetic Variants

Gene:FRG1
Variant:p.S26N

FRG1

159 papers

RefSeq Summary

This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has relate...

Pfam Domains

FRG1aa 67–256UCSCFRG1-like domain

Gene Aliases

HGNC Name

FSHD region gene 1

HGNC Alias Symbols

FSG1; FRG1A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_004477.3
p.S26N
c.77G>A
Surrounding Variants
1 paper
NM_004477.3
p.D28E
c.84T>G
1 paper
NM_004477.3
p.K23fs
c.67_68fs
1 paper
NM_004477.3
p.K23_K30delFs
c.67_89del23
1 paper
NM_004477.3
p.K30K
c.90A>G
1 paper
NM_004477.3
p.K32K
c.96A>G
1 paper
NM_004477.3
p.D36D
c.108T>C
1 paper
NM_004477.3
p.E37E
c.111A>G
1 paper
NM_004477.3
p.L41F
c.121C>T
2 papers
NM_004477.3
p.I43fs
c.127_128fs
2 papers
NM_004477.3
p.I43delFs
c.128delT
1 paper
NM_004477.3
p.K20N
c.60G>C
1 paper
NM_004477.3
p.K20N
c.60G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."