Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.M1924fs

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.M1924fs
c.5770_5771fs
Surrounding Variants
1 paper
NM_025137.4
p.S1923insFs
c.5769dupT
15 papers
NM_025137.4
p.S1923delFs
c.5769delA
2 papers
NM_025137.4
p.S1923fs
c.5767_5768fs
1 paper
NM_025137.4
p.S1923R
c.5769T>G
1 paper
NM_025137.4
p.S1923R
c.5769T>A
6 papers
NM_025137.4
p.S1923fs
c.5767_5768fs
1 paper
NM_025137.4
p.S1923R
c.5767A>C
3 papers
NM_025137.4
p.E1921fs
c.5761_5762fs
4 papers
NM_025137.4
p.S1919_G1920delFs
c.5757_5758delCT
1 paper
NM_025137.4
p.P1929R
c.5786C>G
2 papers
NM_025137.4
p.A1918D
c.5753C>A
1 paper
NM_025137.4
p.I1931M
c.5793C>G
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