Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.K734*

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.K734*
c.2200A>T
Surrounding Variants
12 papers
NM_025137.4
p.L733*
c.2198T>G
12 papers
NM_025137.4
p.L733*
c.2198T>A
20 papers
NM_025137.4
p.L733_K734del2
c.2197_2201del6
1 paper
NM_025137.4
p.N732_L733insCA
c.2194_2198ins6
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.A741T
c.2221G>A
1 paper
NM_025137.4
p.I722fs
c.2164_2165fs
4 papers
NM_025137.4
p.I722fs
c.2164_2165fs
18 papers
NM_025137.4
p.L721insFs
c.2163dupT
1 paper
NM_025137.4
p.E720*
c.2158G>T
2 papers
NM_025137.4
p.M748T
c.2243T>C
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