Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN1
Variant:p.D210E

SEPTIN1

30 papers

RefSeq Summary

This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis and the maintenance of cellular morphology. This gene encodes a protein that can form homo- a...

Pfam Domains

Septinaa 27–308UCSCSeptin

Gene Aliases

HGNC Name

septin 1

HGNC Previous Symbols

DIFF6; SEPT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001365977.2
p.D210E
c.630C>G
Surrounding Variants
1 paper
NM_001365977.2
p.D210E
c.630C>A
1 paper
NM_001365977.2
p.A222del1
c.664_665delTGC
1 paper
NM_001365977.2
p.R193W
c.577C>T
1 paper
NM_001365977.2
p.G243E
c.728G>A
1 paper
NM_001365977.2
p.R248W
c.742A>T
1 paper
NM_001365977.2
p.G249E
c.746G>A
1 paper
NM_001365977.2
p.G293D
c.878G>A
1 paper
NM_001365977.2
p.E335D
c.1005G>T
1 paper
NM_001365977.2
p.E335D
c.1005G>C
1 paper
NM_001365977.2
p.Y144S
c.431A>C
1 paper
NM_001365977.2
p.S127I
c.380G>T
1 paper
NM_001365977.2
p.R346H
c.1037G>A
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