Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.R411G

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.R411G
c.1231A>G
Surrounding Variants
1 paper
NM_025137.4
p.D402_R411delins
c.1204_1232delinsGGAGGTGGAGG
1 paper
NM_025137.4
p.G410E
c.1229G>A
4 papers
NM_025137.4
p.S412L
c.1235C>T
10 papers
NM_025137.4
p.S412*
c.1235C>G
6 papers
NM_025137.4
p.S412*
c.1235C>A
1 paper
NM_025137.4
p.P409S
c.1225C>T
1 paper
NM_025137.4
p.D408N
c.1222G>A
1 paper
NM_025137.4
p.K405_S407delFs
c.1215_1219del5
2 papers
NM_025137.4
p.I415delFs
c.1243delT
2 papers
NM_025137.4
p.M416I
c.1248G>T
2 papers
NM_025137.4
p.M416I
c.1248G>C
2 papers
NM_025137.4
p.M416I
c.1248G>A
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