Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN9
Variant:p.G7E

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
Selected Variant
1 paper
NM_001113491.2
p.G7E
c.20G>A
Surrounding Variants
1 paper
NM_001113491.2
p.T9S
c.25A>T
1 paper
NM_001113491.2
p.R10R
c.30G>T
1 paper
NM_001113491.2
p.R18K
c.53G>A
1 paper
NM_001113491.2
p.R18T
c.53G>C
2 papers
NM_001113491.2
p.G20V
c.59G>T
1 paper
NM_001113491.2
p.G20_D21ins2
c.60_61ins6
1 paper
NM_001113491.2
p.S22A
c.64T>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."