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.E1707D

c.5121G>T

Surrounding Variants

1 paper

NM_020461.4

p.E1707D

c.5121G>C

1 paper

NM_020461.4

p.F1696L

c.5088C>G

1 paper

NM_020461.4

p.F1696L

c.5088C>A

1 paper

NM_020461.4

p.F1696L

c.5086T>C

1 paper

NM_020461.4

p.E1695K

c.5083G>A

1 paper

NM_020461.4

p.Q1667_L1668Fs

c.5001_5003delinsCAFs

1 paper

NM_020461.4

p.Q1667delFs

c.5001delC

1 paper

NM_020461.4

p.Q1667fs

c.4999_5000fs

1 paper

NM_020461.4

p.Q1667fs

c.4999_5000fs

1 paper

NM_020461.4

p.A1730V

c.5189C>T

1 paper

NM_020461.4

p.H1738Y

c.5212C>T

1 paper

NM_020461.4

p.Q1754*

c.5260C>T