Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.N414K

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.N414K
c.1242C>A
Surrounding Variants
1 paper
NM_177987.3
p.N414K
c.1242C>G
1 paper
NM_177987.3
p.N414S
c.1241A>G
5 papers
NM_177987.3
p.M415I
c.1245G>T
5 papers
NM_177987.3
p.M415I
c.1245G>C
5 papers
NM_177987.3
p.M415I
c.1245G>A
1 paper
NM_177987.3
p.S413R
c.1239C>G
1 paper
NM_177987.3
p.S413R
c.1239C>A
1 paper
NM_177987.3
p.E412delFs
c.1235_1236delCT
1 paper
NM_177987.3
p.S413R
c.1237A>C
5 papers
NM_177987.3
p.D417Y
c.1249G>T
13 papers
NM_177987.3
p.D417N
c.1249G>A
1 paper
NM_177987.3
p.E412K
c.1234G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."