Varaico: Literature-Extracted Genetic Variants

Gene:TUBGCP6
Variant:p.S932*

TUBGCP6

180 papers

RefSeq Summary

The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008].

Pfam Domains

GCP6_Naa 28–342UCSCGamma-tubulin complex component 6 N-terminus
GCP_N_terminalaa 353–687UCSCGamma tubulin complex component N-terminal
GCP_C_terminalaa 1513–1816UCSCGamma tubulin complex component C-terminal

Gene Aliases

HGNC Name

tubulin gamma complex component 6

HGNC Alias Symbols

GCP6; KIAA1669; DJ402G11.6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020461.4
p.S932*
c.2795C>G
Surrounding Variants
1 paper
NM_020461.4
p.S932*
c.2795C>A
1 paper
NM_020461.4
p.P930insFs
c.2789dupC
1 paper
NM_020461.4
p.P931delFs
c.2793delG
1 paper
NM_020461.4
p.P931fs
c.2791_2792fs
1 paper
NM_020461.4
p.N926I
c.2777A>T
1 paper
NM_020461.4
p.T924S
c.2771C>G
1 paper
NM_020461.4
p.T924S
c.2770A>T
1 paper
NM_020461.4
p.Q944E
c.2830C>G
1 paper
NM_020461.4
p.G903S
c.2707G>A
1 paper
NM_020461.4
p.P889insFs
c.2665_2666insA
2 papers
NM_020461.4
p.A884V
c.2651C>T
1 paper
NM_020461.4
p.G990R
c.2968G>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."