Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.F1901I

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.F1901I
c.5701T>A
Surrounding Variants
2 papers
NM_025137.4
p.F1901delFs
c.5703delA
1 paper
NM_025137.4
p.R1899W
c.5695C>T
2 papers
NM_025137.4
p.R1896_V1897delFs
c.5687_5691del5
1 paper
NM_025137.4
p.D1907N
c.5719G>A
1 paper
NM_025137.4
p.R1884C
c.5650C>T
2 papers
NM_025137.4
p.A1918D
c.5753C>A
1 paper
NM_025137.4
p.I1882fs
c.5644_5645fs
1 paper
NM_025137.4
p.I1882S
c.5645T>G
1 paper
NM_025137.4
p.I1882delFs
c.5644delT
4 papers
NM_025137.4
p.S1919_G1920delFs
c.5757_5758delCT
3 papers
NM_025137.4
p.E1921fs
c.5761_5762fs
6 papers
NM_025137.4
p.S1923fs
c.5767_5768fs
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