Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN9

SEPTIN9

141 papers

RefSeq Summary

This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neura...

Pfam Domains

Septinaa 295–574UCSCSeptin

Gene Aliases

HGNC Name

septin 9

HGNC Previous Symbols

MSF; SEPT9

Papers
RefSeq ID
Protein change
DNA change
1–12 of 119 variants
11 papers
NM_006640.5
p.R88W
c.262C>T
7 papers
NM_006640.5
p.S93F
c.278C>T
4 papers
NM_001113491.2
p.R106W
c.316C>T
2 papers
NM_001113491.2
p.G20V
c.59G>T
2 papers
NM_001113491.2
p.L52L
c.156C>T
2 papers
NM_001113491.2
p.A100A
c.300G>C
2 papers
NM_001113491.2
p.P145L
c.434C>T
2 papers
NM_006640.5
p.P127L
c.380C>T
2 papers
NM_001113491.2
p.R148W
c.442C>T
2 papers
NM_001113491.2
p.R399C
c.1195C>T
2 papers
NM_006640.5
p.V469A
c.1406T>C
2 papers
NM_006640.5
p.M558V
c.1672A>G
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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."