Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.V236insFs

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
2 papers
NM_177987.3
p.V236insFs
c.707dupT
Surrounding Variants
2 papers
NM_177987.3
p.V236delFs
c.706delC
1 paper
NM_177987.3
p.V236L
c.706G>C
11 papers
NM_177987.3
p.T238M
c.713C>T
1 paper
NM_177987.3
p.C239R
c.715T>C
7 papers
NM_177987.3
p.C239S
c.715T>A
1 paper
NM_177987.3
p.C239F
c.716G>T
7 papers
NM_177987.3
p.C239S
c.716G>C
2 papers
NM_177987.3
p.C239Y
c.716G>A
6 papers
NM_177987.3
p.C239W
c.717C>G
3 papers
NM_177987.3
p.M233V
c.697A>G
7 papers
NM_177987.3
p.R241C
c.721C>T
3 papers
NM_177987.3
p.T232I
c.695C>T
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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."