Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.L285F

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
3 papers
NM_025137.4
p.L285F
c.855A>C
Surrounding Variants
2 papers
NM_025137.4
p.L285F
c.855A>T
1 paper
NM_025137.4
p.S276_L285del10
c.826_854del30
1 paper
NM_025137.4
p.L285V
c.853T>G
1 paper
NM_025137.4
p.S275_N284del10
c.823_851del30
4 papers
NM_025137.4
p.N284_N286delFs
c.852_856del5
1 paper
NM_025137.4
p.L287S
c.860T>C
4 papers
NM_025137.4
p.N284fs
c.850_851fs
1 paper
NM_025137.4
p.F289L
c.865T>C
1 paper
NM_025137.4
p.A282V
c.845C>T
1 paper
NM_025137.4
p.A282G
c.845C>G
1 paper
NM_025137.4
p.F289L
c.867C>G
1 paper
NM_025137.4
p.F289L
c.867C>A
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