Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.M245fs

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
19 papers
NM_025137.4
p.M245fs
c.733_734fs
Surrounding Variants
2 papers
NM_025137.4
p.M245V
c.733A>G
1 paper
NM_025137.4
p.M245L
c.733A>C
1 paper
NM_025137.4
p.D244_M245insFs
c.732_733insCA
1 paper
NM_025137.4
p.D244E
c.732C>A
8 papers
NM_025137.4
p.M245fs
c.733_734fs
54 papers
NM_025137.4
p.M245delFs
c.733_734delAT
1 paper
NM_025137.4
p.N247D
c.739A>G
1 paper
NM_025137.4
p.K242N
c.726A>T
1 paper
NM_025137.4
p.K242N
c.726A>C
1 paper
NM_025137.4
p.H241Y
c.721C>T
1 paper
NM_025137.4
p.D244_E248del5
c.730_743del15
1 paper
NM_025137.4
p.A239_L240insFs
c.717_718insAC
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