Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.K1733insFs

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.K1733insFs
c.5199dupA
Surrounding Variants
7 papers
NM_025137.4
p.K1733delFs
c.5199delT
1 paper
NM_025137.4
p.C1734fs
c.5200_5201fs
2 papers
NM_025137.4
p.C1734F
c.5201G>T
1 paper
NM_025137.4
p.C1734insFs
c.5201_5202insA
1 paper
NM_025137.4
p.K1733fs
c.5197_5198fs
1 paper
NM_025137.4
p.C1734fs
c.5200_5201fs
1 paper
NM_025137.4
p.K1733fs
c.5197_5198fs
1 paper
NM_025137.4
p.H1735R
c.5204A>G
2 papers
NM_025137.4
p.W1731*
c.5193G>A
2 papers
NM_025137.4
p.W1731*
c.5192G>A
1 paper
NM_025137.4
p.F1730C
c.5189T>G
1 paper
NM_025137.4
p.Q1725delFs
c.5175delT
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