Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.R651*

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
25 papers
NM_025137.4
p.R651*
c.1951C>T
Surrounding Variants
1 paper
NM_025137.4
p.R651G
c.1951C>G
1 paper
NM_025137.4
p.N648D
c.1942A>G
1 paper
NM_025137.4
p.I647S
c.1940T>G
1 paper
NM_025137.4
p.I647V
c.1939A>G
1 paper
NM_025137.4
p.I655I
c.1965A>T
2 papers
NM_025137.4
p.K656fs
c.1966_1967fs
1 paper
NM_025137.4
p.K656M
c.1967A>T
1 paper
NM_025137.4
p.K656fs
c.1966_1967fs
6 papers
NM_025137.4
p.K656delFs
c.1966_1967delTT
3 papers
NM_025137.4
p.T644S
c.1931C>G
3 papers
NM_025137.4
p.T644S
c.1930A>T
1 paper
NM_025137.4
p.L643W
c.1928T>G
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