Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.S230F

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.S230F
c.689C>T
Surrounding Variants
1 paper
NM_177987.3
p.A231T
c.691G>A
8 papers
NM_177987.3
p.V229A
c.686T>C
1 paper
NM_177987.3
p.H227_L228del2
c.679_683del6
3 papers
NM_177987.3
p.T232S
c.694A>T
1 paper
NM_177987.3
p.L228P
c.683T>C
3 papers
NM_177987.3
p.T232I
c.695C>T
4 papers
NM_177987.3
p.T232S
c.695C>G
3 papers
NM_177987.3
p.M233V
c.697A>G
1 paper
NM_177987.3
p.L225R
c.674T>G
1 paper
NM_177987.3
p.L225M
c.673C>A
1 paper
NM_177987.3
p.V236L
c.706G>C
2 papers
NM_177987.3
p.V236delFs
c.706delC
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."