Varaico: Literature-Extracted Genetic Variants

Gene:FRG1
Variant:p.L231P

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
2 papers
NM_004477.3
p.L231P
c.692T>C
Surrounding Variants
1 paper
NM_004477.3
p.I230V
c.688A>G
1 paper
NM_004477.3
p.K233K
c.699G>A
1 paper
NM_004477.3
p.S228I
c.683G>T
10 papers
NM_004477.3
p.R235Q
c.704G>A
4 papers
NM_004477.3
p.D227Y
c.679G>T
1 paper
NM_004477.3
p.H241R
c.722A>G
1 paper
NM_004477.3
p.K220K
c.660A>G
1 paper
NM_004477.3
p.E242G
c.725A>G
1 paper
NM_004477.3
p.T243M
c.728C>T
3 papers
NM_004477.3
p.D218E
c.654C>A
3 papers
NM_004477.3
p.D218E
c.654C>G
1 paper
NM_004477.3
p.Q217H
c.651A>C
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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."