Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.K401E

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.K401E
c.1201A>G
Surrounding Variants
1 paper
NM_025137.4
p.K401_D402insTT
c.1201_1205ins6
3 papers
NM_025137.4
p.K401T
c.1202A>C
1 paper
NM_025137.4
p.K401fs
c.1201_1202fs
3 papers
NM_025137.4
p.D402fs
c.1204_1205fs
20 papers
NM_025137.4
p.K401delFs
c.1203delT
1 paper
NM_025137.4
p.Q400*
c.1198C>T
2 papers
NM_025137.4
p.D402fs
c.1204_1205fs
1 paper
NM_025137.4
p.H403Y
c.1207C>T
1 paper
NM_025137.4
p.H403R
c.1208A>G
2 papers
NM_025137.4
p.K405T
c.1214A>C
2 papers
NM_025137.4
p.Y396C
c.1187A>G
1 paper
NM_025137.4
p.K405_S407delFs
c.1215_1219del5
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