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

5 papers

NM_020461.4

p.D689Splc

c.2066-6A>G

Surrounding Variants

3 papers

NM_020461.4

p.D689fs

c.2065_2066fs

1 paper

NM_020461.4

p.D689E

c.2067C>G

1 paper

NM_020461.4

p.D689E

c.2067C>A

1 paper

NM_020461.4

p.R695Fs

c.2083_2085delinsGFs

1 paper

NM_020461.4

p.R677L

c.2030G>T

1 paper

NM_020461.4

p.I667V

c.1999A>G

2 papers

NM_020461.4

p.R719*

c.2155C>T

1 paper

NM_020461.4

p.R720H

c.2159G>A

1 paper

NM_020461.4

p.E726D

c.2178G>T

1 paper

NM_020461.4

p.E726D

c.2178G>C

1 paper

NM_020461.4

p.R736C

c.2206C>T

4 papers

NM_020461.4

p.R739*

c.2215C>T