Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.S2065*

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
4 papers
NM_025137.4
p.S2065*
c.6194C>G
Surrounding Variants
2 papers
NM_025137.4
p.S2065*
c.6194C>A
1 paper
NM_025137.4
p.S2065P
c.6193T>C
2 papers
NM_025137.4
p.Q2066delFs
c.6197_6198delCT
1 paper
NM_025137.4
p.G2067fs
c.6199_6200fs
1 paper
NM_025137.4
p.T2063S
c.6188C>G
2 papers
NM_025137.4
p.G2067G
c.6201A>T
1 paper
NM_025137.4
p.T2063S
c.6187A>T
1 paper
NM_025137.4
p.G2067delFs
c.6200delC
4 papers
NM_025137.4
p.T2068T
c.6204A>G
1 paper
NM_025137.4
p.G2069Splc
c.6205+1G>T
2 papers
NM_025137.4
p.G2069Splc
c.6205+1G>A
2 papers
NM_025137.4
p.R2059W
c.6175C>T
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