Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.L105delFs

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
2 papers
NM_025137.4
p.L105delFs
c.315delG
Surrounding Variants
1 paper
NM_025137.4
p.A106fs
c.316_317fs
1 paper
NM_025137.4
p.A106S
c.316G>T
4 papers
NM_025137.4
p.A106P
c.316G>C
2 papers
NM_025137.4
p.A106T
c.316G>A
1 paper
NM_025137.4
p.A106V
c.317C>T
1 paper
NM_025137.4
p.L105_A106insFs
c.315_316insT
2 papers
NM_025137.4
p.A106D
c.317C>A
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.L107insFs
c.319dupC
1 paper
NM_025137.4
p.K103insFs
c.308_309insA
1 paper
NM_025137.4
p.G108V
c.323G>T
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