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.G1299fs

c.3895_3896fs

Surrounding Variants

1 paper

NM_020461.4

p.P1298insFs

c.3893dupC

1 paper

NM_020461.4

p.A1305P

c.3913G>C

1 paper

NM_020461.4

p.S1283L

c.3848C>T

1 paper

NM_020461.4

p.R1320R

c.3960G>C

2 papers

NM_020461.4

p.S1334L

c.4001C>T

1 paper

NM_020461.4

p.G1337R

c.4009G>C

1 paper

NM_020461.4

p.G1337R

c.4009G>A

2 papers

NM_020461.4

p.G1335_G1339ins1

c.4003_4017dup15

1 paper

NM_020461.4

p.P1255S

c.3763C>T

1 paper

NM_020461.4

p.N1346N

c.4038C>T

1 paper

NM_020461.4

p.A1351T

c.4051G>A

1 paper

NM_020461.4

p.A1248T

c.3742G>A