Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.S261*

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.S261*
c.782C>G
Surrounding Variants
2 papers
NM_025137.4
p.S261*
c.782C>A
1 paper
NM_025137.4
p.D267Y
c.799G>T
1 paper
NM_025137.4
p.D267N
c.799G>A
2 papers
NM_025137.4
p.D269N
c.805G>A
1 paper
NM_025137.4
p.P253S
c.757C>T
10 papers
NM_025137.4
p.V270I
c.808G>A
2 papers
NM_025137.4
p.Q251*
c.751C>T
1 paper
NM_025137.4
p.I273V
c.817A>G
1 paper
NM_025137.4
p.I273S
c.818T>G
1 paper
NM_025137.4
p.D244_E248del5
c.730_743del15
3 papers
NM_025137.4
p.V274I
c.820G>A
1 paper
NM_025137.4
p.S275N
c.824G>A
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