Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN14

SEPTIN14

51 papers

RefSeq Summary

SEPT14 is a member of the highly conserved septin family of GTP-binding cytoskeletal proteins implicated in membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and other ...

Pfam Domains

Septinaa 49–321UCSCSeptin

Gene Aliases

HGNC Name

septin 14

HGNC Previous Symbol

SEPT14

Papers
RefSeq ID
Protein change
DNA change
1–12 of 74 variants
5 papers
NM_207366.3
p.A123T
c.367G>A
5 papers
NM_207366.3
p.I333T
c.998T>C
4 papers
NM_207366.3
p.R45T
c.134G>C
2 papers
NM_207366.3
p.S66L
c.197C>T
2 papers
NM_207366.3
p.E137Q
c.409G>C
2 papers
NM_207366.3
p.D197N
c.589G>A
2 papers
NM_207366.3
p.D203G
c.608A>G
1 paper
NM_207366.3
p.M1T
c.2T>C
1 paper
NM_207366.3
p.M1insFs
c.2dupT
1 paper
NM_207366.3
p.M1delFs
c.2delA
1 paper
NM_207366.3
p.M1insFs
c.3dupG
1 paper
NM_207366.3
p.Q11L
c.32A>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."