Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.I210T

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.I210T
c.629T>C
Surrounding Variants
2 papers
NM_177987.3
p.I210K
c.629T>A
2 papers
NM_177987.3
p.I210L
c.628A>T
10 papers
NM_177987.3
p.I210V
c.628A>G
2 papers
NM_177987.3
p.I210L
c.628A>C
2 papers
NM_177987.3
p.C211R
c.631T>C
1 paper
NM_177987.3
p.I210_C211delFs
c.630_631delAT
1 paper
NM_177987.3
p.C211*
c.633T>A
2 papers
NM_177987.3
p.L207L
c.621G>A
5 papers
NM_177987.3
p.K213R
c.638A>G
1 paper
NM_177987.3
p.L207L
c.619C>T
1 paper
NM_177987.3
p.A206V
c.617C>T
1 paper
NM_177987.3
p.A206T
c.616G>A
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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."