Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.H671insFs

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
2 papers
NM_025137.4
p.H671insFs
c.2012dupA
Surrounding Variants
2 papers
NM_025137.4
p.E672K
c.2014G>A
1 paper
NM_025137.4
p.H671R
c.2012A>G
1 paper
NM_025137.4
p.H671fs
c.2011_2012fs
1 paper
NM_025137.4
p.E672A
c.2015A>C
2 papers
NM_025137.4
p.Y668C
c.2003A>G
1 paper
NM_025137.4
p.V677fs
c.2029_2030fs
1 paper
NM_025137.4
p.D666H
c.1996G>C
2 papers
NM_025137.4
p.V677_K678delFs
c.2030_2034del5
1 paper
NM_025137.4
p.I682V
c.2044A>G
1 paper
NM_025137.4
p.K685insFs
c.2055dupA
1 paper
NM_025137.4
p.K676_K684del9
c.2026_2051del27
1 paper
NM_025137.4
p.L686P
c.2057T>C
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