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.G1550R

c.4648G>A

Surrounding Variants

1 paper

NM_020461.4

p.G1550R

c.4648G>C

1 paper

NM_020461.4

p.G1550_E1551del2

c.4648_4652del6

1 paper

NM_020461.4

p.L1553V

c.4657C>G

2 papers

NM_020461.4

p.P1555L

c.4664C>T

1 paper

NM_020461.4

p.A1565D

c.4694C>A

1 paper

NM_020461.4

p.N1579_L1580insA

c.4735_4739ins3

1 paper

NM_020461.4

p.E1589K

c.4765G>A

1 paper

NM_020461.4

p.N1594D

c.4780A>G

3 papers

NM_020461.4

p.K1542_L1543Splc

c.4626+1G>A

2 papers

NM_020461.4

p.A1532T

c.4594G>A

1 paper

NM_020461.4

p.G1529S

c.4585G>A

1 paper

NM_020461.4

p.A1515V

c.4544C>T