Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A

TUBA4A

320 papers

RefSeq Summary

Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are p...

Pfam Domains

Tubulinaa 3–214UCSCTubulin/FtsZ family, GTPase domain
Tubulin_Caa 263–393UCSCTubulin C-terminal domain

Gene Aliases

HGNC Name

tubulin alpha 4a

HGNC Previous Symbol

TUBA1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 298 variants
27 papers
NM_006000.3
p.W407*
c.1220G>A
27 papers
NM_006000.3
p.W407*
c.1221G>A
21 papers
NM_006000.3
p.R320C
c.958C>T
20 papers
NM_006000.3
p.A383T
c.1147G>A
18 papers
NM_006000.3
p.R215C
c.643C>T
17 papers
NM_006000.3
p.Q128L
c.383A>T
16 papers
NM_006000.3
p.T145P
c.433A>C
12 papers
NM_006000.3
p.R320H
c.959G>A
12 papers
NM_006000.3
p.K430N
c.1290G>T
12 papers
NM_006000.3
p.K430N
c.1290G>C
11 papers
NM_006000.3
p.G43V
c.128G>T
9 papers
NM_006000.3
p.V181M
c.541G>A
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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."