Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN9
Variant:p.N372K

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.N372K
c.1116C>G
Surrounding Variants
1 paper
NM_006640.5
p.P346L
c.1037C>T
1 paper
NM_001113491.2
p.R355W
c.1063C>T
1 paper
NM_001113491.2
p.V354I
c.1060G>A
1 paper
NM_001113491.2
p.P378S
c.1132C>T
1 paper
NM_001113491.2
p.N384Y
c.1150A>T
1 paper
NM_001113495.2
p.V144D
c.431T>A
2 papers
NM_001113491.2
p.R399C
c.1195C>T
1 paper
NM_001113491.2
p.R399H
c.1196G>A
1 paper
NM_001113491.2
p.R402C
c.1204C>T
1 paper
NM_006640.5
p.I385I
c.1155C>T
1 paper
NM_001113491.2
p.G419D
c.1256G>A
1 paper
NM_001113491.2
p.D348N
c.1042G>A
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