Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.V189_I193del0

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.V189_I193del0
c.565_579del15
Surrounding Variants
6 papers
NM_177987.3
p.E194K
c.580G>A
3 papers
NM_177987.3
p.A196T
c.586G>A
1 paper
NM_177987.3
p.A196A
c.588A>G
1 paper
NM_177987.3
p.E198D
c.594G>T
1 paper
NM_177987.3
p.E198D
c.594G>C
2 papers
NM_177987.3
p.H190Y
c.568C>T
2 papers
NM_177987.3
p.V189G
c.566T>G
1 paper
NM_177987.3
p.V189I
c.565G>A
1 paper
NM_177987.3
p.V189fs
c.565_566fs
4 papers
NM_177987.3
p.F200L
c.598T>C
4 papers
NM_177987.3
p.F200L
c.600T>G
4 papers
NM_177987.3
p.F200L
c.600T>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."