Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.M293delFs

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.M293delFs
c.878delA
Surrounding Variants
1 paper
NM_177987.3
p.F294L
c.880T>C
1 paper
NM_177987.3
p.M293fs
c.877_878fs
1 paper
NM_177987.3
p.F294L
c.882T>G
1 paper
NM_177987.3
p.F294L
c.882T>A
6 papers
NM_177987.3
p.D295H
c.883G>C
1 paper
NM_177987.3
p.Q292delins
c.874_875delinsAT
1 paper
NM_177987.3
p.Q292*
c.874C>T
1 paper
NM_177987.3
p.Q292K
c.874C>A
1 paper
NM_177987.3
p.Q291R
c.872A>G
6 papers
NM_177987.3
p.N298S
c.893A>G
1 paper
NM_177987.3
p.E288D
c.864G>C
3 papers
NM_177987.3
p.M300L
c.898A>T
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