Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.A313V

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
16 papers
NM_177987.3
p.A313V
c.938C>T
Surrounding Variants
1 paper
NM_177987.3
p.A313T
c.937G>A
5 papers
NM_177987.3
p.A314S
c.940G>T
4 papers
NM_177987.3
p.T312M
c.935C>T
1 paper
NM_177987.3
p.L311P
c.932T>C
2 papers
NM_177987.3
p.Y310H
c.928T>C
2 papers
NM_177987.3
p.R309H
c.926G>A
4 papers
NM_177987.3
p.R309C
c.925C>T
6 papers
NM_177987.3
p.G308S
c.922G>A
1 paper
NM_177987.3
p.G319insFs
c.956_957insA
2 papers
NM_177987.3
p.G319D
c.956G>A
6 papers
NM_177987.3
p.R320H
c.959G>A
2 papers
NM_177987.3
p.R306H
c.917G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."