Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN9
Variant:p.Y473F

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.Y473F
c.1418A>T
Surrounding Variants
1 paper
NM_001113491.2
p.P474S
c.1420C>T
1 paper
NM_001113491.2
p.G469S
c.1405G>A
1 paper
NM_001113491.2
p.S482*
c.1445C>A
1 paper
NM_001113491.2
p.T462A
c.1384A>G
2 papers
NM_006640.5
p.V469A
c.1406T>C
1 paper
NM_001113491.2
p.V487G
c.1460T>G
1 paper
NM_006640.5
p.E471K
c.1411G>A
1 paper
NM_001113491.2
p.E489A
c.1466A>C
1 paper
NM_001113494.1
p.I331I
c.993C>T
1 paper
NM_006640.5
p.V507Splc
c.1519+58C>T
1 paper
NM_006640.5
p.V507Splc
c.1519+86A>G
1 paper
NM_001113491.2
p.R460W
c.1378C>T
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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."