Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.L721insFs

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
18 papers
NM_025137.4
p.L721insFs
c.2163dupT
Surrounding Variants
4 papers
NM_025137.4
p.I722fs
c.2164_2165fs
1 paper
NM_025137.4
p.I722fs
c.2164_2165fs
1 paper
NM_025137.4
p.E720*
c.2158G>T
9 papers
NM_025137.4
p.Q716*
c.2146C>T
1 paper
NM_025137.4
p.Q716K
c.2146C>A
1 paper
NM_025137.4
p.F730insFs
c.2190dupT
1 paper
NM_025137.4
p.D731N
c.2191G>A
1 paper
NM_025137.4
p.R709_D711del0
c.2125_2133del9
1 paper
NM_025137.4
p.N732_L733insCA
c.2194_2198ins6
12 papers
NM_025137.4
p.L733*
c.2198T>G
12 papers
NM_025137.4
p.L733*
c.2198T>A
1 paper
NM_025137.4
p.K734*
c.2200A>T
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