Varaico: Literature-Extracted Genetic Variants

Gene:FRG1
Variant:p.G112G

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
1 paper
NM_004477.3
p.G112G
c.336C>G
Surrounding Variants
3 papers
NM_004477.3
p.K110K
c.330G>A
2 papers
NM_004477.3
p.K110N
c.330G>C
2 papers
NM_004477.3
p.K110N
c.330G>T
1 paper
NM_004477.3
p.L117fs
c.349_350fs
4 papers
NM_004477.3
p.A108T
c.322G>A
2 papers
NM_004477.3
p.I107I
c.321C>T
2 papers
NM_004477.3
p.I107T
c.320T>C
6 papers
NM_004477.3
p.R106S
c.318A>C
1 paper
NM_004477.3
p.R106Splc
c.318-6G>A
13 papers
NM_004477.3
p.G123E
c.368G>A
1 paper
NM_004477.3
p.G127W
c.379G>T
7 papers
NM_004477.3
p.R128C
c.382C>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."