Varaico: Literature-Extracted Genetic Variants

TUBGCP4

62 papers

RefSeq Summary

This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubuli...

Pfam Domains

GCP_N_terminalaa 2–347UCSCGamma tubulin complex component N-terminal

GCP_C_terminalaa 350–655UCSCGamma tubulin complex component C-terminal

Gene Aliases

HGNC Name

tubulin gamma complex component 4

HGNC Alias Symbols

76P; FLJ14797; GCP4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014444.5

p.E237K

c.709G>A

Surrounding Variants

1 paper

NM_014444.5

p.G232E

c.695G>A

1 paper

NM_014444.5

p.E223_D224insFs

c.669_670dupGG

1 paper

NM_014444.5

p.Q207delFs

c.620delA

1 paper

NM_014444.5

p.L197L

c.589T>C

3 papers

NM_014444.5

p.G194fs

c.580_581fs

4 papers

NM_014444.5

p.G194fs

c.580_581fs

8 papers

NM_014444.5

p.H193insFs

c.579dupT

1 paper

NM_014444.5

p.A177T

c.529G>A

1 paper

NM_014444.5

p.L241_R242Splc

c.724-474T>C

1 paper

NM_014444.5

p.Q284H

c.852G>C

1 paper

NM_014444.5

p.Q284H

c.852G>T

1 paper

NM_014444.5

p.R295*

c.883A>T