Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.Q64L

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.Q64L
c.191A>T
Surrounding Variants
2 papers
NM_025137.4
p.Q64insFs
c.190dupC
1 paper
NM_025137.4
p.Q64E
c.190C>G
1 paper
NM_025137.4
p.L63L
c.189C>G
2 papers
NM_025137.4
p.L63F
c.187C>T
1 paper
NM_025137.4
p.G61D
c.182G>A
1 paper
NM_025137.4
p.S67C
c.200C>G
1 paper
NM_025137.4
p.S67fs
c.199_200fs
1 paper
NM_025137.4
p.G61R
c.181G>C
1 paper
NM_025137.4
p.L68W
c.203T>G
1 paper
NM_025137.4
p.L68S
c.203T>C
1 paper
NM_025137.4
p.L68insFs
c.202_203dupTT
1 paper
NM_025137.4
p.S67_L68delFs
c.200_203del4
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."