Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.A695T

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
12 papers
NM_025137.4
p.A695T
c.2083G>A
Surrounding Variants
1 paper
NM_025137.4
p.S694C
c.2080A>T
2 papers
NM_025137.4
p.I692T
c.2075T>C
1 paper
NM_025137.4
p.E689_E690Splc
c.2068-2A>G
1 paper
NM_025137.4
p.E703G
c.2108A>G
2 papers
NM_025137.4
p.Q705*
c.2113C>T
4 papers
NM_025137.4
p.A704_Q705del2
c.2110_2114del6
1 paper
NM_025137.4
p.F707L
c.2119T>C
1 paper
NM_025137.4
p.F707L
c.2121C>G
1 paper
NM_025137.4
p.F707insFs
c.2120_2121insTT
1 paper
NM_025137.4
p.F707fs
c.2119_2120fs
1 paper
NM_025137.4
p.F707L
c.2121C>A
1 paper
NM_025137.4
p.F708insFs
c.2123dupT
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