Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.Q424R

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.Q424R
c.1271A>G
Surrounding Variants
7 papers
NM_177987.3
p.Q424*
c.1270C>T
6 papers
NM_177987.3
p.Q426_D427insG
c.1276_1280ins3
1 paper
NM_177987.3
p.Y422C
c.1265A>G
4 papers
NM_177987.3
p.E421K
c.1261G>A
2 papers
NM_177987.3
p.A428S
c.1282G>T
1 paper
NM_177987.3
p.S420F
c.1259C>T
8 papers
NM_177987.3
p.T429M
c.1286C>T
1 paper
NM_177987.3
p.A430S
c.1288G>T
1 paper
NM_177987.3
p.T429_A430del1
c.1286_1288delCCG
1 paper
NM_177987.3
p.A430_E431del1
c.1289_1291delCGG
1 paper
NM_177987.3
p.T429_A430delFs
c.1286_1289del4
5 papers
NM_177987.3
p.D417Y
c.1249G>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."