Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.E1798K

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.E1798K
c.5392G>A
Surrounding Variants
2 papers
NM_025137.4
p.Q1800fs
c.5398_5399fs
1 paper
NM_025137.4
p.Q1800*
c.5398C>T
1 paper
NM_025137.4
p.Q1800E
c.5398C>G
1 paper
NM_025137.4
p.Q1800_I1801Fs
c.5399_5402delinsTGGAGGATFs
2 papers
NM_025137.4
p.Q1800fs
c.5398_5399fs
1 paper
NM_025137.4
p.Q1800_I1801Fs
c.5399_5402delinsTGGFs
3 papers
NM_025137.4
p.Q1800_I1801Fs
c.5399_5402delinsTGGAGGAGFs
17 papers
NM_025137.4
p.L1794P
c.5381T>C
1 paper
NM_025137.4
p.D1792N
c.5374G>A
3 papers
NM_025137.4
p.C1804fs
c.5410_5411fs
1 paper
NM_025137.4
p.L1791*
c.5372T>A
10 papers
NM_025137.4
p.C1804delFs
c.5410_5411delCA
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