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

1–12 of 61 variants

10 papers

NM_014444.5

p.L582L

c.1746G>T

8 papers

NM_014444.5

p.H193insFs

c.579dupT

5 papers

NM_014444.5

p.Y100delFs

c.298delT

5 papers

NM_014444.5

p.W460*

c.1380G>A

4 papers

NM_014444.5

p.Y100fs

c.298_299fs

4 papers

NM_014444.5

p.G194fs

c.580_581fs

4 papers

NM_014444.5

p.W460*

c.1379G>A

3 papers

NM_014444.5

p.G194fs

c.580_581fs

3 papers

NM_014444.5

p.R551*

c.1651C>T

3 papers

NM_014444.5

p.R557*

c.1669C>T

1 paper

NM_014444.5

p.S10N

c.29G>A

1 paper

NM_014444.5

p.G11R

c.31G>A