Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.K252N

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.K252N
c.756G>C
Surrounding Variants
1 paper
NM_177987.3
p.K252N
c.756G>T
6 papers
NM_177987.3
p.R251Q
c.752G>A
1 paper
NM_177987.3
p.A254V
c.761C>T
1 paper
NM_177987.3
p.R251R
c.751C>A
15 papers
NM_177987.3
p.V255M
c.763G>A
1 paper
NM_177987.3
p.D249E
c.747C>G
1 paper
NM_177987.3
p.N256S
c.767A>G
6 papers
NM_177987.3
p.A248V
c.743C>T
1 paper
NM_177987.3
p.A248T
c.742G>A
1 paper
NM_177987.3
p.V258A
c.773T>C
5 papers
NM_177987.3
p.L246V
c.736C>G
9 papers
NM_177987.3
p.Q245H
c.735G>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."