Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.R290T

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.R290T
c.869G>C
Surrounding Variants
1 paper
NM_025137.4
p.R290Splc
c.869+1G>T
3 papers
NM_025137.4
p.R290Splc
c.869+1G>A
1 paper
NM_025137.4
p.F289L
c.867C>G
1 paper
NM_025137.4
p.F289L
c.867C>A
1 paper
NM_025137.4
p.R290Splc
c.869+3A>G
1 paper
NM_025137.4
p.F289L
c.865T>C
1 paper
NM_025137.4
p.L287S
c.860T>C
4 papers
NM_025137.4
p.N284_N286delFs
c.852_856del5
1 paper
NM_025137.4
p.S276_L285del10
c.826_854del30
2 papers
NM_025137.4
p.L285F
c.855A>T
3 papers
NM_025137.4
p.L285F
c.855A>C
1 paper
NM_025137.4
p.L285V
c.853T>G
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