Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.N110delFs

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.N110delFs
c.329delT
Surrounding Variants
2 papers
NM_025137.4
p.N110D
c.328A>G
1 paper
NM_025137.4
p.S95_G108delFs
c.283_323del41
1 paper
NM_025137.4
p.G108V
c.323G>T
1 paper
NM_025137.4
p.G108D
c.323G>A
1 paper
NM_025137.4
p.L113M
c.337C>A
1 paper
NM_025137.4
p.L113P
c.338T>C
1 paper
NM_025137.4
p.L113insFs
c.338_339insT
1 paper
NM_025137.4
p.L107insFs
c.319dupC
2 papers
NM_025137.4
p.L114P
c.341T>C
1 paper
NM_025137.4
p.L107F
c.319C>T
1 paper
NM_025137.4
p.L107V
c.319C>G
1 paper
NM_025137.4
p.A106V
c.317C>T
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