Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.H1932H

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.H1932H
c.5796T>C
Surrounding Variants
1 paper
NM_025137.4
p.A1933fs
c.5797_5798fs
3 papers
NM_025137.4
p.H1932delFs
c.5794delG
2 papers
NM_025137.4
p.H1932fs
c.5794_5795fs
1 paper
NM_025137.4
p.A1933fs
c.5797_5798fs
12 papers
NM_025137.4
p.A1933delFs
c.5798delG
1 paper
NM_025137.4
p.I1931M
c.5793C>G
1 paper
NM_025137.4
p.P1929R
c.5786C>G
1 paper
NM_025137.4
p.M1924fs
c.5770_5771fs
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
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