Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.K19_F20Splc

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.K19_F20Splc
c.57+48C>T
Surrounding Variants
1 paper
NM_177987.3
p.K19_F20Splc
c.57+26T>C
1 paper
NM_177987.3
p.K19_F20Splc
c.57+10C>T
1 paper
NM_177987.3
p.K19M
c.56A>T
4 papers
NM_177987.3
p.G17S
c.49G>A
2 papers
NM_177987.3
p.Q15H
c.45G>C
1 paper
NM_177987.3
p.Q15fs
c.43_44fs
2 papers
NM_177987.3
p.Q15K
c.43C>A
1 paper
NM_177987.3
p.G13E
c.38G>A
3 papers
NM_177987.3
p.G13R
c.37G>C
4 papers
NM_177987.3
p.G13R
c.37G>A
6 papers
NM_177987.3
p.C12Y
c.35G>A
1 paper
NM_177987.3
p.Q11H
c.33G>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."