Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.G319insFs

TUBB8

159 papers

RefSeq Summary

The protein encoded by this gene represents the primary beta-tubulin subunit of oocytes and the early embryo. Defects in this gene, which is primate-specific, are a cause of oocyte maturation defect 2...

Pfam Domains

Tubulinaa 3–212UCSCTubulin/FtsZ family, GTPase domain
Tubulin_Caa 261–383UCSCTubulin C-terminal domain

Gene Aliases

HGNC Name

tubulin beta 8 class VIII

HGNC Alias Symbol

bA631M21.2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_177987.3
p.G319insFs
c.956_957insA
Surrounding Variants
2 papers
NM_177987.3
p.G319D
c.956G>A
6 papers
NM_177987.3
p.R320H
c.959G>A
1 paper
NM_177987.3
p.R320R
c.960C>A
1 paper
NM_177987.3
p.M321I
c.963G>T
1 paper
NM_177987.3
p.M321I
c.963G>C
1 paper
NM_177987.3
p.M321I
c.963G>A
1 paper
NM_177987.3
p.P322S
c.964C>T
3 papers
NM_177987.3
p.M323fs
c.967_968fs
2 papers
NM_177987.3
p.M323V
c.967A>G
4 papers
NM_177987.3
p.P322insFs
c.966dupC
5 papers
NM_177987.3
p.A314S
c.940G>T
16 papers
NM_177987.3
p.A313V
c.938C>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."