Varaico: Literature-Extracted Genetic Variants

Gene:TUBGCP6
Variant:p.N1085D

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.N1085D
c.3253A>G
Surrounding Variants
1 paper
NM_020461.4
p.S1095fs
c.3283_3284fs
1 paper
NM_020461.4
p.V1094_S1095delFs
c.3282_3283delAC
3 papers
NM_020461.4
p.Q1074R
c.3221A>G
1 paper
NM_020461.4
p.R1101W
c.3301C>T
1 paper
NM_020461.4
p.V1067_S1068ins7
c.3199_3203ins21
2 papers
NM_020461.4
p.R1103W
c.3307C>T
3 papers
NM_020461.4
p.E1065K
c.3193G>A
2 papers
NM_020461.4
p.G1064R
c.3190G>C
2 papers
NM_020461.4
p.G1064R
c.3190G>A
1 paper
NM_020461.4
p.I1106T
c.3317T>C
1 paper
NM_020461.4
p.H1055_A1059del5
c.3163_3176del15
1 paper
NM_020461.4
p.A1059T
c.3175G>A
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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."