Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.M460V

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.M460V
c.1378A>G
Surrounding Variants
16 papers
NM_025137.4
p.F463S
c.1388T>C
1 paper
NM_025137.4
p.S464P
c.1390T>C
1 paper
NM_025137.4
p.L465V
c.1393C>G
1 paper
NM_025137.4
p.L465I
c.1393C>A
1 paper
NM_025137.4
p.D454G
c.1361A>G
1 paper
NM_025137.4
p.D454_L455insA
c.1360_1364ins3
1 paper
NM_025137.4
p.D454N
c.1360G>A
1 paper
NM_025137.4
p.W453*
c.1359G>A
1 paper
NM_025137.4
p.W453*
c.1358G>A
1 paper
NM_025137.4
p.T467I
c.1400C>T
1 paper
NM_025137.4
p.Y448_T451del4
c.1342_1352del12
1 paper
NM_025137.4
p.K468N
c.1404G>T
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