Varaico: Literature-Extracted Genetic Variants

Gene:TUBGCP6
Variant:p.E849G

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
3 papers
NM_020461.4
p.E849G
c.2546A>G
Surrounding Variants
1 paper
NM_020461.4
p.D844_S847del4
c.2530_2540del12
1 paper
NM_020461.4
p.H836_P837delFs
c.2507_2510del4
1 paper
NM_020461.4
p.G862_L863ins16
c.2584_2588ins48
1 paper
NM_020461.4
p.T830M
c.2489C>T
1 paper
NM_020461.4
p.K870K
c.2610G>A
2 papers
NM_020461.4
p.A884V
c.2651C>T
1 paper
NM_020461.4
p.P889insFs
c.2665_2666insA
1 paper
NM_020461.4
p.G903S
c.2707G>A
1 paper
NM_020461.4
p.T924S
c.2770A>T
1 paper
NM_020461.4
p.T924S
c.2771C>G
1 paper
NM_020461.4
p.N926I
c.2777A>T
1 paper
NM_020461.4
p.P931fs
c.2791_2792fs
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