Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.T143fs

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
11 papers
NM_177987.3
p.T143fs
c.427_428fs
Surrounding Variants
11 papers
NM_177987.3
p.G142_T143insFs
c.426_427insG
1 paper
NM_177987.3
p.G144W
c.430G>T
1 paper
NM_177987.3
p.G141A
c.422G>C
1 paper
NM_177987.3
p.G144delFs
c.432delC
1 paper
NM_177987.3
p.S145fs
c.433_434fs
2 papers
NM_177987.3
p.G141R
c.421G>C
3 papers
NM_177987.3
p.G141R
c.421G>A
1 paper
NM_177987.3
p.G140A
c.419G>C
1 paper
NM_177987.3
p.L139P
c.416T>C
3 papers
NM_177987.3
p.S145_G148del0
c.434_442del9
1 paper
NM_177987.3
p.S145_G148delFs
c.434_443del10
2 papers
NM_177987.3
p.T136I
c.407C>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."