Varaico: Literature-Extracted Genetic Variants

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.Q783P

c.2348A>C

Surrounding Variants

2 papers

NM_020461.4

p.R786*

c.2356C>T

1 paper

NM_020461.4

p.E775*

c.2323G>T

1 paper

NM_020461.4

p.R774W

c.2320C>T

1 paper

NM_020461.4

p.R793H

c.2378G>A

1 paper

NM_020461.4

p.L795F

c.2383C>T

1 paper

NM_020461.4

p.E811K

c.2431G>A

1 paper

NM_020461.4

p.T830M

c.2489C>T

1 paper

NM_020461.4

p.H836_P837delFs

c.2507_2510del4

1 paper

NM_020461.4

p.D844_S847del4

c.2530_2540del12

3 papers

NM_020461.4

p.E849G

c.2546A>G

1 paper

NM_020461.4

p.G862_L863ins16

c.2584_2588ins48

1 paper

NM_020461.4

p.K870K

c.2610G>A