Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.N376D

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
3 papers
NM_025137.4
p.N376D
c.1126A>G
Surrounding Variants
1 paper
NM_025137.4
p.G375D
c.1124G>A
1 paper
NM_025137.4
p.H377D
c.1129C>G
1 paper
NM_025137.4
p.S374F
c.1121C>T
3 papers
NM_025137.4
p.S374C
c.1121C>G
1 paper
NM_025137.4
p.S374insFs
c.1121_1122insA
1 paper
NM_025137.4
p.H377delFs
c.1130delT
1 paper
NM_025137.4
p.S378C
c.1132A>T
1 paper
NM_025137.4
p.S378G
c.1132A>G
1 paper
NM_025137.4
p.S378R
c.1132A>C
1 paper
NM_025137.4
p.N376_H377del1
c.1128_1130delTGG
1 paper
NM_025137.4
p.S378R
c.1134T>G
1 paper
NM_025137.4
p.S378R
c.1134T>A
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