Varaico: Literature-Extracted Genetic Variants

Gene:TUBGCP4
Variant:p.Y100delFs

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
5 papers
NM_014444.5
p.Y100delFs
c.298delT
Surrounding Variants
4 papers
NM_014444.5
p.Y100fs
c.298_299fs
1 paper
NM_014444.5
p.C90G
c.268T>G
1 paper
NM_014444.5
p.L86M
c.256C>A
1 paper
NM_014444.5
p.E110_F111Splc
c.330+8G>A
1 paper
NM_014444.5
p.I84M
c.252C>G
1 paper
NM_014444.5
p.G80R
c.238G>A
1 paper
NM_014444.5
p.G80R
c.238G>C
1 paper
NM_014444.5
p.G64S
c.190G>A
1 paper
NM_014444.5
p.Q61R
c.182A>G
1 paper
NM_014444.5
p.F58F
c.174C>T
1 paper
NM_014444.5
p.L48F
c.142C>T
1 paper
NM_014444.5
p.T39N
c.116C>A
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