Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.V189I

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.V189I
c.565G>A
Surrounding Variants
1 paper
NM_177987.3
p.V189fs
c.565_566fs
2 papers
NM_177987.3
p.V189G
c.566T>G
2 papers
NM_177987.3
p.H190Y
c.568C>T
3 papers
NM_177987.3
p.A185V
c.554C>T
1 paper
NM_177987.3
p.A185T
c.553G>A
6 papers
NM_177987.3
p.E194K
c.580G>A
2 papers
NM_177987.3
p.N184D
c.550A>G
1 paper
NM_177987.3
p.V189_I193del0
c.565_579del15
1 paper
NM_177987.3
p.Y183C
c.548A>G
1 paper
NM_177987.3
p.P182_Y183delFs
c.546_547delAG
3 papers
NM_177987.3
p.A196T
c.586G>A
5 papers
NM_177987.3
p.P182S
c.544C>T
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