Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.C129C

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.C129C
c.387C>T
Surrounding Variants
4 papers
NM_177987.3
p.D128insFs
c.382dupG
6 papers
NM_177987.3
p.D128fs
c.382_383fs
3 papers
NM_177987.3
p.G132C
c.394G>T
1 paper
NM_177987.3
p.S126N
c.377G>A
5 papers
NM_177987.3
p.F133S
c.398T>C
9 papers
NM_177987.3
p.Q134*
c.400C>T
1 paper
NM_177987.3
p.Q134H
c.402G>T
1 paper
NM_177987.3
p.Q134H
c.402G>C
1 paper
NM_177987.3
p.L135_T136insFs
c.405_406insTG
1 paper
NM_177987.3
p.L135insFs
c.404_405dupTG
1 paper
NM_177987.3
p.E123K
c.367G>A
1 paper
NM_177987.3
p.R121_K122delFs
c.363_366del4
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