Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.Q1755_V1758del4

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.Q1755_V1758del4
c.5263_5273del12
Surrounding Variants
1 paper
NM_025137.4
p.V1758M
c.5272G>A
1 paper
NM_025137.4
p.H1757R
c.5270A>G
1 paper
NM_025137.4
p.E1761*
c.5281G>T
1 paper
NM_025137.4
p.F1752fs
c.5254_5255fs
11 papers
NM_025137.4
p.F1752delFs
c.5255delA
2 papers
NM_025137.4
p.F1752fs
c.5254_5255fs
1 paper
NM_025137.4
p.F1751L
c.5253T>G
1 paper
NM_025137.4
p.F1751L
c.5253T>A
1 paper
NM_025137.4
p.F1751L
c.5251T>C
1 paper
NM_025137.4
p.S1750F
c.5249C>T
1 paper
NM_025137.4
p.R1772C
c.5314C>T
2 papers
NM_025137.4
p.R1772H
c.5315G>A
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