Varaico: Literature-Extracted Genetic Variants

Gene:TUBGCP4
Variant:p.Y529delFs

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.Y529delFs
c.1587delC
Surrounding Variants
1 paper
NM_014444.5
p.Q528delFs
c.1582delC
1 paper
NM_014444.5
p.A521E
c.1562C>A
1 paper
NM_014444.5
p.R501C
c.1501C>T
1 paper
NM_014444.5
p.K479_L481del3
c.1435_1442del9
1 paper
NM_014444.5
p.Q546*
c.1636C>T
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.L564L
c.1690C>T
1 paper
NM_014444.5
p.S571F
c.1712C>T
5 papers
NM_014444.5
p.W460*
c.1380G>A
4 papers
NM_014444.5
p.W460*
c.1379G>A
1 paper
NM_014444.5
p.I418I
c.1254C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."