Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.P34S

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
3 papers
NM_025137.4
p.P34S
c.100C>T
Surrounding Variants
1 paper
NM_025137.4
p.P34delFs
c.101_102delGG
1 paper
NM_025137.4
p.P32P
c.96A>T
1 paper
NM_025137.4
p.P32P
c.96A>G
1 paper
NM_025137.4
p.A35A
c.105C>A
3 papers
NM_025137.4
p.V31V
c.93G>C
6 papers
NM_025137.4
p.V31V
c.93G>A
1 paper
NM_025137.4
p.E36V
c.107A>T
1 paper
NM_025137.4
p.V31A
c.92T>C
1 paper
NM_025137.4
p.L30S
c.89T>C
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.L29_L30insFs
c.87_88insA
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