Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.P171L

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.P171L
c.512C>T
Surrounding Variants
1 paper
NM_177987.3
p.P171T
c.511C>A
1 paper
NM_177987.3
p.S172P
c.514T>C
1 paper
NM_177987.3
p.L170delFs
c.508delG
1 paper
NM_177987.3
p.S172S
c.516G>T
1 paper
NM_177987.3
p.P173T
c.517C>A
1 paper
NM_177987.3
p.P173L
c.518C>T
1 paper
NM_177987.3
p.P173R
c.518C>G
1 paper
NM_177987.3
p.V175L
c.523G>T
1 paper
NM_177987.3
p.V175L
c.523G>C
3 papers
NM_177987.3
p.V175M
c.523G>A
6 papers
NM_177987.3
p.V175A
c.524T>C
2 papers
NM_177987.3
p.V175V
c.525G>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."