Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.L1837*

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.L1837*
c.5510T>G
Surrounding Variants
2 papers
NM_025137.4
p.L1837_A1838insA
c.5509_5513ins3
1 paper
NM_025137.4
p.S1839I
c.5516G>T
1 paper
NM_025137.4
p.F1834_D1835insT
c.5500_5504ins3
2 papers
NM_025137.4
p.S1833A
c.5497T>G
1 paper
NM_025137.4
p.S1833P
c.5497T>C
1 paper
NM_025137.4
p.E1831G
c.5492A>G
3 papers
NM_025137.4
p.G1830delFs
c.5490delA
1 paper
NM_025137.4
p.F1843delFs
c.5528delA
1 paper
NM_025137.4
p.E1831fs
c.5491_5492fs
2 papers
NM_025137.4
p.G1830D
c.5489G>A
3 papers
NM_025137.4
p.S1844_K1845delFs
c.5532_5533delTG
1 paper
NM_025137.4
p.K1845_L1846del2
c.5533_5537del6
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