Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.Q705*

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
2 papers
NM_025137.4
p.Q705*
c.2113C>T
Surrounding Variants
4 papers
NM_025137.4
p.A704_Q705del2
c.2110_2114del6
1 paper
NM_025137.4
p.E703G
c.2108A>G
1 paper
NM_025137.4
p.F707L
c.2119T>C
1 paper
NM_025137.4
p.F707L
c.2121C>G
1 paper
NM_025137.4
p.F707insFs
c.2120_2121insTT
1 paper
NM_025137.4
p.F707fs
c.2119_2120fs
1 paper
NM_025137.4
p.F707L
c.2121C>A
1 paper
NM_025137.4
p.F708insFs
c.2123dupT
1 paper
NM_025137.4
p.T706_F708delFs
c.2118_2122del5
1 paper
NM_025137.4
p.R709T
c.2126G>C
1 paper
NM_025137.4
p.R709_D711del0
c.2125_2133del9
12 papers
NM_025137.4
p.A695T
c.2083G>A
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