Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN1

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
1–12 of 20 variants
1 paper
NM_001365977.2
p.K8R
c.23A>G
1 paper
NM_001365977.2
p.G12V
c.35G>T
1 paper
NM_001365977.2
p.F31L
c.91T>C
1 paper
NM_001365977.2
p.F31L
c.93C>G
1 paper
NM_001365977.2
p.F31L
c.93C>A
1 paper
NM_001365977.2
p.T71_V79delFs
c.211_235del25
1 paper
NM_001365977.2
p.S127I
c.380G>T
1 paper
NM_001365977.2
p.Y144S
c.431A>C
1 paper
NM_001365977.2
p.R193W
c.577C>T
1 paper
NM_001365977.2
p.D210E
c.630C>G
1 paper
NM_001365977.2
p.D210E
c.630C>A
1 paper
NM_001365977.2
p.A222del1
c.664_665delTGC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."