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.D594N

c.1780G>A

Surrounding Variants

1 paper

NM_020461.4

p.Y596H

c.1786T>C

1 paper

NM_020461.4

p.P585P

c.1755C>T

1 paper

NM_020461.4

p.P585L

c.1754C>T

1 paper

NM_020461.4

p.R611Q

c.1832G>A

4 papers

NM_020461.4

p.R611_H612Splc

c.1833+1G>A

1 paper

NM_020461.4

p.L575L

c.1725C>G

1 paper

NM_020461.4

p.T570S

c.1708A>T

1 paper

NM_020461.4

p.L567S

c.1700T>C

2 papers

NM_020461.4

p.R564*

c.1690C>T

1 paper

NM_020461.4

p.F563F

c.1689C>T

1 paper

NM_020461.4

p.P622S

c.1864C>T

1 paper

NM_020461.4

p.R623W

c.1867C>T