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

3 papers

NM_020461.4

p.H1495Splc

c.4485-21A>C

Surrounding Variants

1 paper

NM_020461.4

p.A1503T

c.4507G>A

1 paper

NM_020461.4

p.A1494T

c.4480G>A

1 paper

NM_020461.4

p.T1489M

c.4466C>T

1 paper

NM_020461.4

p.A1515V

c.4544C>T

1 paper

NM_020461.4

p.G1529S

c.4585G>A

1 paper

NM_020461.4

p.T1470_A1471del2

c.4408_4412del6

2 papers

NM_020461.4

p.A1532T

c.4594G>A

1 paper

NM_020461.4

p.A1466V

c.4397C>T

1 paper

NM_020461.4

p.Q1462E

c.4384C>G

3 papers

NM_020461.4

p.K1542_L1543Splc

c.4626+1G>A

1 paper

NM_020461.4

p.H1445fs

c.4333_4334fs

2 papers

NM_020461.4

p.H1445fs

c.4333_4334fs