Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN9
Variant:p.L318I

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.L318I
c.952C>A
Surrounding Variants
1 paper
NM_001113491.2
p.N316Y
c.946A>T
1 paper
NM_001113491.2
p.R335Fs
c.1003delinsGAFs
1 paper
NM_001113491.2
p.R335H
c.1004G>A
1 paper
NM_001113491.2
p.P337S
c.1009C>T
1 paper
NM_001113495.2
p.K92M
c.275A>T
1 paper
NM_001113491.2
p.D348N
c.1042G>A
1 paper
NM_001113491.2
p.V354I
c.1060G>A
1 paper
NM_001113491.2
p.R355W
c.1063C>T
1 paper
NM_006640.5
p.P346L
c.1037C>T
1 paper
NM_001113491.2
p.N372K
c.1116C>G
1 paper
NM_001113491.2
p.P378S
c.1132C>T
1 paper
NM_001113491.2
p.N384Y
c.1150A>T
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