Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.D122_C125delFs

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.D122_C125delFs
c.364_373del10
Surrounding Variants
1 paper
NM_025137.4
p.D126H
c.376G>C
2 papers
NM_025137.4
p.D126N
c.376G>A
1 paper
NM_025137.4
p.R124delFs
c.372delT
1 paper
NM_025137.4
p.D126delFs
c.376delC
1 paper
NM_025137.4
p.A127T
c.379G>A
1 paper
NM_025137.4
p.R124G
c.370A>G
1 paper
NM_025137.4
p.A127A
c.381A>T
1 paper
NM_025137.4
p.G123A
c.368G>C
7 papers
NM_025137.4
p.T128S
c.382A>T
1 paper
NM_025137.4
p.T128A
c.382A>G
1 paper
NM_025137.4
p.T128insFs
c.382_383insAG
1 paper
NM_025137.4
p.I129V
c.385A>G
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