Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.W344R

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.W344R
c.1030T>A
Surrounding Variants
1 paper
NM_177987.3
p.W344R
c.1030T>C
1 paper
NM_177987.3
p.W344*
c.1031G>A
1 paper
NM_177987.3
p.W344*
c.1032G>A
1 paper
NM_177987.3
p.F341_A342del2
c.1021_1025del6
3 papers
NM_177987.3
p.L345F
c.1033C>T
1 paper
NM_177987.3
p.P346L
c.1037C>T
4 papers
NM_177987.3
p.N347D
c.1039A>G
4 papers
NM_177987.3
p.N347K
c.1041C>G
4 papers
NM_177987.3
p.N347K
c.1041C>A
9 papers
NM_177987.3
p.N348S
c.1043A>G
7 papers
NM_177987.3
p.V349I
c.1045G>A
1 paper
NM_177987.3
p.S338N
c.1013G>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."