Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A

TUBA1A

358 papers

RefSeq Summary

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

Pfam Domains

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

Gene Aliases

HGNC Name

tubulin alpha 1a

HGNC Alias Symbols

TUBA3; B-ALPHA-1; FLJ25113

Papers
RefSeq ID
Protein change
DNA change
1–12 of 2367 variants
60 papers
NM_006009.4
p.R402H
c.1205G>A
48 papers
NM_006009.4
p.R402C
c.1204C>T
46 papers
NM_006009.4
p.R264C
c.790C>T
31 papers
NM_006009.4
p.R422H
c.1265G>A
29 papers
NM_006009.4
p.P263T
c.787C>A
25 papers
NM_006009.4
p.L286F
c.856C>T
23 papers
NM_006009.4
p.S419L
c.1256C>T
23 papers
NM_006009.4
p.R422C
c.1264C>T
22 papers
NM_006009.4
p.S140G
c.418A>G
22 papers
NM_006009.4
p.R390C
c.1168C>T
22 papers
NM_006009.4
p.L397P
c.1190T>C
20 papers
NM_006009.4
p.I188L
c.562A>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."