Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.C1804fs

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
3 papers
NM_025137.4
p.C1804fs
c.5410_5411fs
Surrounding Variants
10 papers
NM_025137.4
p.C1804delFs
c.5410_5411delCA
3 papers
NM_025137.4
p.R1805H
c.5414G>A
1 paper
NM_025137.4
p.Q1800_I1801Fs
c.5399_5402delinsTGGFs
3 papers
NM_025137.4
p.Q1800_I1801Fs
c.5399_5402delinsTGGAGGAGFs
2 papers
NM_025137.4
p.Q1800fs
c.5398_5399fs
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.Q1808*
c.5422C>T
1 paper
NM_025137.4
p.Q1800*
c.5398C>T
1 paper
NM_025137.4
p.Q1800E
c.5398C>G
2 papers
NM_025137.4
p.E1798K
c.5392G>A
1 paper
NM_025137.4
p.T1810S
c.5428A>T
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