Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.Q245*

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.Q245*
c.733C>T
Surrounding Variants
2 papers
NM_177987.3
p.Q245K
c.733C>A
9 papers
NM_177987.3
p.Q245H
c.735G>T
8 papers
NM_177987.3
p.Q245H
c.735G>C
1 paper
NM_177987.3
p.G244A
c.731G>C
1 paper
NM_177987.3
p.G244S
c.730G>A
5 papers
NM_177987.3
p.L246V
c.736C>G
1 paper
NM_177987.3
p.P243P
c.729G>C
6 papers
NM_177987.3
p.P243L
c.728C>T
4 papers
NM_177987.3
p.P243R
c.728C>G
1 paper
NM_177987.3
p.A248T
c.742G>A
6 papers
NM_177987.3
p.A248V
c.743C>T
2 papers
NM_177987.3
p.R241L
c.722G>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."