Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.M300del1

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.M300del1
c.898_899delCAT
Surrounding Variants
8 papers
NM_177987.3
p.M300I
c.900G>T
8 papers
NM_177987.3
p.M300I
c.900G>C
8 papers
NM_177987.3
p.M300I
c.900G>A
4 papers
NM_177987.3
p.A302T
c.904G>A
3 papers
NM_177987.3
p.M300L
c.898A>T
4 papers
NM_177987.3
p.M300L
c.898A>C
1 paper
NM_177987.3
p.A302insFs
c.906dupC
9 papers
NM_177987.3
p.C303R
c.907T>C
6 papers
NM_177987.3
p.N298S
c.893A>G
3 papers
NM_177987.3
p.R306fs
c.916_917fs
6 papers
NM_177987.3
p.R306C
c.916C>T
1 paper
NM_177987.3
p.R306S
c.916C>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."