Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8

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
1–12 of 458 variants
20 papers
NM_177987.3
p.I4L
c.10A>C
17 papers
NM_177987.3
p.E108K
c.322G>A
16 papers
NM_177987.3
p.S176L
c.527C>T
16 papers
NM_177987.3
p.A313V
c.938C>T
15 papers
NM_177987.3
p.V255M
c.763G>A
13 papers
NM_177987.3
p.G98R
c.292G>C
13 papers
NM_177987.3
p.G98R
c.292G>A
13 papers
NM_177987.3
p.D417N
c.1249G>A
12 papers
NM_177987.3
p.G109V
c.326G>T
12 papers
NM_177987.3
p.V179M
c.535G>A
11 papers
NM_177987.3
p.P70L
c.209C>T
11 papers
NM_177987.3
p.T143fs
c.427_428fs
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."