Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.E405_M406insTG

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
1 paper
NM_177987.3
p.E405_M406insTG
c.1213_1217ins6
Surrounding Variants
1 paper
NM_177987.3
p.E405delFs
c.1215delC
5 papers
NM_177987.3
p.M403fs
c.1207_1208fs
3 papers
NM_177987.3
p.M403V
c.1207A>G
4 papers
NM_177987.3
p.G402insFs
c.1205dupG
2 papers
NM_177987.3
p.G402fs
c.1204_1205fs
2 papers
NM_177987.3
p.E401_G402insFs
c.1203_1204insCT
1 paper
NM_177987.3
p.E401K
c.1201G>A
1 paper
NM_177987.3
p.G400A
c.1199G>C
8 papers
NM_177987.3
p.E410K
c.1228G>A
1 paper
NM_177987.3
p.T399M
c.1196C>T
3 papers
NM_177987.3
p.A411D
c.1232C>A
1 paper
NM_177987.3
p.Y398S
c.1193A>C
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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."