Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.T99T

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.T99T
c.297T>A
Surrounding Variants
1 paper
NM_025137.4
p.E100K
c.298G>A
1 paper
NM_025137.4
p.E100G
c.299A>G
1 paper
NM_025137.4
p.K101R
c.302A>G
2 papers
NM_025137.4
p.P102S
c.304C>T
1 paper
NM_025137.4
p.P102A
c.304C>G
1 paper
NM_025137.4
p.S96del1
c.286_287delGCT
1 paper
NM_025137.4
p.S96I
c.287G>T
1 paper
NM_025137.4
p.S96N
c.287G>A
2 papers
NM_025137.4
p.S92_S95delFs
c.275_284del10
1 paper
NM_025137.4
p.K101_P102del2
c.301_305del6
1 paper
NM_025137.4
p.K103insFs
c.308_309insA
1 paper
NM_025137.4
p.S95C
c.283A>T
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."