Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.C354Y

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
5 papers
NM_177987.3
p.C354Y
c.1061G>A
Surrounding Variants
11 papers
NM_177987.3
p.V353I
c.1057G>A
2 papers
NM_177987.3
p.A352V
c.1055C>T
5 papers
NM_177987.3
p.A352S
c.1054G>T
4 papers
NM_177987.3
p.P358S
c.1072C>T
4 papers
NM_177987.3
p.P358A
c.1072C>G
7 papers
NM_177987.3
p.P358L
c.1073C>T
2 papers
NM_177987.3
p.R359W
c.1075C>T
4 papers
NM_177987.3
p.R359Q
c.1076G>A
7 papers
NM_177987.3
p.V349I
c.1045G>A
9 papers
NM_177987.3
p.N348S
c.1043A>G
4 papers
NM_177987.3
p.N347K
c.1041C>G
4 papers
NM_177987.3
p.N347K
c.1041C>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."