Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.P83L

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.P83L
c.248C>T
Surrounding Variants
1 paper
NM_025137.4
p.G82_P83delFs
c.244_248del5
1 paper
NM_025137.4
p.G82S
c.244G>A
1 paper
NM_025137.4
p.W85G
c.253T>G
6 papers
NM_025137.4
p.W85*
c.254G>A
1 paper
NM_025137.4
p.E81G
c.242A>G
1 paper
NM_025137.4
p.W85C
c.255G>C
7 papers
NM_025137.4
p.W85*
c.255G>A
1 paper
NM_025137.4
p.E81K
c.241G>A
1 paper
NM_025137.4
p.H86Y
c.256C>T
2 papers
NM_025137.4
p.H86D
c.256C>G
1 paper
NM_025137.4
p.H86Splc
c.257+1G>A
1 paper
NM_025137.4
p.L80L
c.238C>T
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