Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.T436N

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.T436N
c.1307C>A
Surrounding Variants
1 paper
NM_025137.4
p.F435L
c.1305C>A
1 paper
NM_025137.4
p.L438P
c.1313T>C
1 paper
NM_025137.4
p.F439C
c.1316T>G
1 paper
NM_025137.4
p.F439F
c.1317T>C
1 paper
NM_025137.4
p.T440I
c.1319C>T
1 paper
NM_025137.4
p.S431_V432insFs
c.1293_1294insTT
1 paper
NM_025137.4
p.S431_V432insFs
c.1293_1294ins2
2 papers
NM_025137.4
p.W441*
c.1322G>A
1 paper
NM_025137.4
p.W441C
c.1323G>T
2 papers
NM_025137.4
p.W441*
c.1323G>A
3 papers
NM_025137.4
p.K428*
c.1282A>T
4 papers
NM_025137.4
p.I425_E426insFs
c.1275_1276insA
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