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.H1738Y

c.5212C>T

Surrounding Variants

1 paper

NM_020461.4

p.A1730V

c.5189C>T

1 paper

NM_020461.4

p.Q1754*

c.5260C>T

1 paper

NM_020461.4

p.P1758S

c.5272C>T

2 papers

NM_020461.4

p.P1759fs

c.5275_5276fs

1 paper

NM_020461.4

p.G1761fs

c.5281_5282fs

1 paper

NM_020461.4

p.G1761delFs

c.5282delC

2 papers

NM_020461.4

p.P1762L

c.5285C>T

3 papers

NM_020461.4

p.P1759_P1762delFs

c.5275_5285del11

2 papers

NM_020461.4

p.R1763W

c.5287C>T

1 paper

NM_020461.4

p.G1764G

c.5292T>G

1 paper

NM_020461.4

p.M1773V

c.5317A>G

2 papers

NM_020461.4

p.S1784Y

c.5351C>A