Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.S96I

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.S96I
c.287G>T
Surrounding Variants
1 paper
NM_025137.4
p.S96N
c.287G>A
2 papers
NM_025137.4
p.S92_S95delFs
c.275_284del10
1 paper
NM_025137.4
p.S96del1
c.286_287delGCT
1 paper
NM_025137.4
p.S95C
c.283A>T
1 paper
NM_025137.4
p.N94K
c.282C>G
1 paper
NM_025137.4
p.N94K
c.282C>A
1 paper
NM_025137.4
p.R93delFs
c.278delC
1 paper
NM_025137.4
p.R93H
c.278G>A
1 paper
NM_025137.4
p.T99T
c.297T>A
2 papers
NM_025137.4
p.R93fs
c.277_278fs
1 paper
NM_025137.4
p.R93S
c.277C>A
1 paper
NM_025137.4
p.E100K
c.298G>A
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