Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.I4L

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
20 papers
NM_177987.3
p.I4L
c.10A>C
Surrounding Variants
4 papers
NM_177987.3
p.I4M
c.12C>G
5 papers
NM_177987.3
p.I4delins
c.10_12delinsCTT
2 papers
NM_177987.3
p.R2S
c.6G>T
3 papers
NM_177987.3
p.R2S
c.6G>C
10 papers
NM_177987.3
p.R2M
c.5G>T
10 papers
NM_177987.3
p.R2K
c.5G>A
1 paper
NM_177987.3
p.M1I
c.3G>T
1 paper
NM_177987.3
p.M1K
c.2T>A
2 papers
NM_177987.3
p.M1V
c.1A>G
1 paper
NM_177987.3
p.I9T
c.26T>C
1 paper
NM_177987.3
p.I9I
c.27C>A
1 paper
NM_177987.3
p.Q11H
c.33G>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."