Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.V76fs

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.V76fs
c.226_227fs
Surrounding Variants
1 paper
NM_177987.3
p.R77C
c.229C>T
1 paper
NM_177987.3
p.V76delFs
c.227_228delCA
1 paper
NM_177987.3
p.M73K
c.218T>A
1 paper
NM_177987.3
p.M73V
c.217A>G
5 papers
NM_177987.3
p.G79E
c.236G>A
1 paper
NM_177987.3
p.P80S
c.238C>T
1 paper
NM_177987.3
p.P80L
c.239C>T
1 paper
NM_177987.3
p.G71R
c.211G>C
11 papers
NM_177987.3
p.P70L
c.209C>T
1 paper
NM_177987.3
p.G82R
c.244G>C
1 paper
NM_177987.3
p.G82R
c.244G>A
1 paper
NM_177987.3
p.P70S
c.208C>T
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