Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN9
Variant:p.E428E

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.E428E
c.1284G>A
Surrounding Variants
1 paper
NM_001113491.2
p.K431Q
c.1291A>C
1 paper
NM_001113491.2
p.L433L
c.1299G>A
1 paper
NM_001113491.2
p.L433L
c.1299G>C
1 paper
NM_001113491.2
p.R423G
c.1267A>G
1 paper
NM_001113491.2
p.V437L
c.1309G>C
1 paper
NM_001113491.2
p.T448A
c.1342A>G
1 paper
NM_001113491.2
p.E453K
c.1357G>A
1 paper
NM_001113491.2
p.R460W
c.1378C>T
1 paper
NM_001113491.2
p.T462A
c.1384A>G
1 paper
NM_001113491.2
p.G469S
c.1405G>A
1 paper
NM_001113491.2
p.Y473F
c.1418A>T
1 paper
NM_001113491.2
p.P474S
c.1420C>T
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