Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN10
Variant:p.R162C

SEPTIN10

38 papers

RefSeq Summary

This gene encodes a member of the septin family of cytoskeletal proteins with GTPase activity. This protein localizes to the cytoplasm and nucleus and displays GTP-binding and GTPase activity. A pseud...

Pfam Domains

Septinaa 63–335UCSCSeptin

Gene Aliases

HGNC Name

septin 10

HGNC Previous Symbol

SEPT10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144710.5
p.R162C
c.484C>T
Surrounding Variants
3 papers
NM_144710.5
p.E156K
c.466G>A
1 paper
NM_144710.5
p.E151K
c.451G>A
1 paper
NM_144710.5
p.G183D
c.548G>A
1 paper
NM_144710.5
p.L186V
c.556C>G
1 paper
NM_144710.5
p.T212insFs
c.634dupA
1 paper
NM_144710.5
p.T212fs
c.634_635fs
1 paper
NM_144710.5
p.G255E
c.764G>A
2 papers
NM_144710.5
p.E267K
c.799G>A
2 papers
NM_144710.5
p.G271R
c.811G>C
2 papers
NM_144710.5
p.G271R
c.811G>A
1 paper
NM_144710.5
p.R278H
c.833G>A
1 paper
NM_144710.5
p.W282S
c.845G>C
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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."