Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.K1013E

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
12 papers
NM_025137.4
p.K1013E
c.3037A>G
Surrounding Variants
3 papers
NM_025137.4
p.K1013Splc
c.3039-5T>G
2 papers
NM_025137.4
p.L1014fs
c.3040_3041fs
1 paper
NM_025137.4
p.C1019Y
c.3056G>A
1 paper
NM_025137.4
p.E1023*
c.3067G>T
1 paper
NM_025137.4
p.E1023G
c.3068A>G
1 paper
NM_025137.4
p.E1026*
c.3076G>T
27 papers
NM_025137.4
p.K1025insFs
c.3075dupA
14 papers
NM_025137.4
p.E1026fs
c.3076_3077fs
3 papers
NM_025137.4
p.E1026fs
c.3076_3077fs
2 papers
NM_025137.4
p.E1026insFs
c.3077dupA
1 paper
NM_025137.4
p.A1030G
c.3089C>G
3 papers
NM_025137.4
p.P1032L
c.3095C>T
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