Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.R276Q

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
3 papers
NM_177987.3
p.R276Q
c.827G>A
Surrounding Variants
1 paper
NM_177987.3
p.G277A
c.830G>C
1 paper
NM_177987.3
p.S278S
c.834C>T
1 paper
NM_177987.3
p.L273P
c.818T>C
3 papers
NM_177987.3
p.L273V
c.817C>G
1 paper
NM_177987.3
p.P272S
c.814C>T
1 paper
NM_177987.3
p.Y281H
c.841T>C
1 paper
NM_177987.3
p.A271_P272insFs
c.813_814ins4
2 papers
NM_177987.3
p.Y281*
c.843C>G
2 papers
NM_177987.3
p.Y281*
c.843C>A
3 papers
NM_177987.3
p.R282W
c.844C>T
6 papers
NM_177987.3
p.R282P
c.845G>C
1 paper
NM_177987.3
p.R282Q
c.845G>A
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