Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.V381fs

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.V381fs
c.1141_1142fs
Surrounding Variants
1 paper
NM_177987.3
p.S382_E383insG
c.1144_1148ins3
1 paper
NM_177987.3
p.S382S
c.1146A>C
10 papers
NM_177987.3
p.R380H
c.1139G>A
3 papers
NM_177987.3
p.R380C
c.1138C>T
1 paper
NM_177987.3
p.L377delFs
c.1129_1130delAG
6 papers
NM_177987.3
p.L377P
c.1130T>C
1 paper
NM_177987.3
p.L377F
c.1129C>T
1 paper
NM_177987.3
p.M388V
c.1162A>G
5 papers
NM_177987.3
p.M388T
c.1163T>C
1 paper
NM_177987.3
p.M388K
c.1163T>A
5 papers
NM_177987.3
p.M388I
c.1164G>T
5 papers
NM_177987.3
p.M388I
c.1164G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."