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

1–12 of 246 variants

5 papers

NM_020461.4

p.D689Splc

c.2066-6A>G

5 papers

NM_020461.4

p.H1055Y

c.3163C>T

4 papers

NM_020461.4

p.R611_H612Splc

c.1833+1G>A

4 papers

NM_020461.4

p.R739*

c.2215C>T

4 papers

NM_020461.4

p.G1189*

c.3565G>T

4 papers

NM_020461.4

p.*1820G

c.5458T>G

3 papers

NM_020461.4

p.D689fs

c.2065_2066fs

3 papers

NM_020461.4

p.E849G

c.2546A>G

3 papers

NM_020461.4

p.E1065K

c.3193G>A

3 papers

NM_020461.4

p.Q1074R

c.3221A>G

3 papers

NM_020461.4

p.T1377insFs

c.4129_4130dupAC

3 papers

NM_020461.4

p.H1495Splc

c.4485-21A>C