Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN12

SEPTIN12

69 papers

RefSeq Summary

This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and memb...

Pfam Domains

Septinaa 46–323UCSCSeptin

Gene Aliases

HGNC Name

septin 12

HGNC Previous Symbol

SEPT12

Papers
RefSeq ID
Protein change
DNA change
1–12 of 112 variants
17 papers
NM_144605.5
p.D197N
c.589G>A
12 papers
NM_144605.5
p.T89M
c.266C>T
10 papers
NM_144605.5
p.V158V
c.474G>A
6 papers
NM_144605.5
p.T111K
c.332C>A
3 papers
NM_144605.5
p.T68T
c.204G>C
3 papers
NM_144605.5
p.W75*
c.225G>A
3 papers
NM_144605.5
p.T111M
c.332C>T
3 papers
NM_144605.5
p.L141L
c.423G>C
3 papers
NM_144605.5
p.V165E
c.494T>A
3 papers
NM_144605.5
p.Q212*
c.634C>T
2 papers
NM_144605.5
p.Q38H
c.114G>T
2 papers
NM_144605.5
p.Q38H
c.114G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."