Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN4

SEPTIN4

122 papers

RefSeq Summary

This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, ...

Pfam Domains

Septinaa 141–421UCSCSeptin

Gene Aliases

HGNC Name

septin 4

HGNC Previous Symbols

PNUTL2; C17orf47; SEPT4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 121 variants
2 papers
NM_001368771.2
p.S37L
c.110C>T
2 papers
NM_001368771.2
p.P429S
c.1285C>T
2 papers
NM_001368771.2
p.G461S
c.1381G>A
1 paper
NM_001368771.2
p.M1T
c.2T>C
1 paper
NM_001368771.2
p.M1insFs
c.2dupT
1 paper
NM_001368771.2
p.M1delFs
c.2delA
1 paper
NM_001368771.2
p.M1insFs
c.3dupG
1 paper
NM_001368771.2
p.K3R
c.8A>G
1 paper
NM_001368771.2
p.P7T
c.19C>A
1 paper
NM_001368771.2
p.V11V
c.33A>C
1 paper
NM_001368771.2
p.V13L
c.37G>C
1 paper
NM_001368771.2
p.S19F
c.56C>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."