Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.P102S

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
2 papers
NM_025137.4
p.P102S
c.304C>T
Surrounding Variants
1 paper
NM_025137.4
p.P102A
c.304C>G
1 paper
NM_025137.4
p.K101R
c.302A>G
1 paper
NM_025137.4
p.E100G
c.299A>G
1 paper
NM_025137.4
p.K101_P102del2
c.301_305del6
1 paper
NM_025137.4
p.E100K
c.298G>A
1 paper
NM_025137.4
p.K103insFs
c.308_309insA
1 paper
NM_025137.4
p.T99T
c.297T>A
1 paper
NM_025137.4
p.L105_A106insFs
c.315_316insT
1 paper
NM_025137.4
p.A106fs
c.316_317fs
1 paper
NM_025137.4
p.A106S
c.316G>T
4 papers
NM_025137.4
p.A106P
c.316G>C
2 papers
NM_025137.4
p.A106T
c.316G>A
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