Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN9
Variant:p.A100A

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
2 papers
NM_001113491.2
p.A100A
c.300G>C
Surrounding Variants
1 paper
NM_001113493.2
p.A93V
c.278C>T
1 paper
NM_001113491.2
p.S96L
c.287C>T
15 papers
NM_006640.5
p.R88W
c.262C>T
NM_001113491.2
p.R106W
c.316C>T
1 paper
NM_001113493.2
p.L88F
c.262C>T
1 paper
NM_001113491.2
p.V93M
c.277G>A
1 paper
NM_001113491.2
p.R92R
c.276G>A
1 paper
NM_001113491.2
p.R92M
c.275G>T
1 paper
NM_001113491.2
p.E109A
c.326A>C
1 paper
NM_001113491.2
p.R91W
c.271C>T
8 papers
NM_006640.5
p.S93F
c.278C>T
NM_001113491.2
p.S111F
c.332C>T
1 paper
NM_001113491.2
p.S85F
c.254C>T
1 paper
NM_001113491.2
p.R84H
c.251G>A
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