Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.L113insFs

SPG11

700 papers

RefSeq Summary

The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcrip...

Pfam Domains

Spatacsin_Caa 2047–2339UCSCSpatacsin C-terminus

Gene Aliases

HGNC Name

SPG11 vesicle trafficking associated, spatacsin

HGNC Previous Symbols

KIAA1840; ALS5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025137.4
p.L113insFs
c.338_339insT
Surrounding Variants
1 paper
NM_025137.4
p.L113P
c.338T>C
2 papers
NM_025137.4
p.L114P
c.341T>C
1 paper
NM_025137.4
p.L113M
c.337C>A
1 paper
NM_025137.4
p.N110delFs
c.329delT
5 papers
NM_025137.4
p.E117*
c.349G>T
2 papers
NM_025137.4
p.E117G
c.350A>G
2 papers
NM_025137.4
p.N110D
c.328A>G
1 paper
NM_025137.4
p.I115_F118insFs
c.343_352dup10
1 paper
NM_025137.4
p.S95_G108delFs
c.283_323del41
1 paper
NM_025137.4
p.G108V
c.323G>T
1 paper
NM_025137.4
p.G108D
c.323G>A
1 paper
NM_025137.4
p.L107insFs
c.319dupC
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."