Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.G447D

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.G447D
c.1340G>A
Surrounding Variants
1 paper
NM_025137.4
p.T449T
c.1347C>T
3 papers
NM_025137.4
p.I450fs
c.1348_1349fs
6 papers
NM_025137.4
p.I450V
c.1348A>G
1 paper
NM_025137.4
p.T449_I450delins
c.1347_1348delinsTG
10 papers
NM_025137.4
p.I450insFs
c.1348dupA
1 paper
NM_025137.4
p.I450fs
c.1348_1349fs
1 paper
NM_025137.4
p.Y448_T451del4
c.1342_1352del12
1 paper
NM_025137.4
p.W441C
c.1323G>T
2 papers
NM_025137.4
p.W441*
c.1323G>A
2 papers
NM_025137.4
p.W441*
c.1322G>A
1 paper
NM_025137.4
p.W453*
c.1358G>A
1 paper
NM_025137.4
p.W453*
c.1359G>A
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