Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.Q329fs

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.Q329fs
c.985_986fs
Surrounding Variants
1 paper
NM_177987.3
p.Q329R
c.986A>G
1 paper
NM_177987.3
p.Q329insFs
c.985dupC
6 papers
NM_177987.3
p.M330I
c.990G>T
6 papers
NM_177987.3
p.M330I
c.990G>C
6 papers
NM_177987.3
p.M330I
c.990G>A
1 paper
NM_177987.3
p.D327G
c.980A>G
1 paper
NM_177987.3
p.V326fs
c.976_977fs
5 papers
NM_177987.3
p.Q334E
c.1000C>G
1 paper
NM_177987.3
p.D327_I333delFs
c.980_999del20
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
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."