Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.E114delFs

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.E114delFs
c.341_342delCT
Surrounding Variants
1 paper
NM_177987.3
p.S115_V116insT
c.343_347ins3
1 paper
NM_177987.3
p.S115*
c.344C>A
1 paper
NM_177987.3
p.M113T
c.338T>C
4 papers
NM_177987.3
p.D118G
c.353A>G
2 papers
NM_177987.3
p.E111fs
c.331_332fs
6 papers
NM_177987.3
p.G109G
c.327C>T
1 paper
NM_177987.3
p.G109delins
c.326_327delinsTT
12 papers
NM_177987.3
p.G109V
c.326G>T
1 paper
NM_177987.3
p.G109D
c.326G>A
17 papers
NM_177987.3
p.E108K
c.322G>A
1 paper
NM_177987.3
p.K122*
c.364A>T
5 papers
NM_177987.3
p.T107T
c.321C>A
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