Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.P27delFs

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.P27delFs
c.80delG
Surrounding Variants
1 paper
NM_025137.4
p.L26P
c.77T>C
1 paper
NM_025137.4
p.L29P
c.86T>C
1 paper
NM_025137.4
p.L29_L30insFs
c.87_88insA
1 paper
NM_025137.4
p.L30insFs
c.88_89insA
1 paper
NM_025137.4
p.M28_L29del0
c.82_87del6
1 paper
NM_025137.4
p.L30S
c.89T>C
1 paper
NM_025137.4
p.R24R
c.72G>C
1 paper
NM_025137.4
p.R24Q
c.71G>A
1 paper
NM_025137.4
p.V31A
c.92T>C
3 papers
NM_025137.4
p.V31V
c.93G>C
1 paper
NM_025137.4
p.G23G
c.69G>C
6 papers
NM_025137.4
p.V31V
c.93G>A
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