Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.R320H

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
Selected Variant
14 papers
NM_006009.4
p.R320H
c.959G>A
Surrounding Variants
1 paper
NM_006009.4
p.R320L
c.959G>T
1 paper
NM_006009.4
p.R320P
c.959G>C
4 papers
NM_006009.4
p.R320C
c.958C>T
1 paper
NM_006009.4
p.R320G
c.958C>G
2 papers
NM_006009.4
p.R320S
c.958C>A
1 paper
NM_006009.4
p.G321C
c.961G>T
1 paper
NM_006009.4
p.G321R
c.961G>C
1 paper
NM_006009.4
p.G321S
c.961G>A
1 paper
NM_006009.4
p.G321V
c.962G>T
1 paper
NM_006009.4
p.G321A
c.962G>C
1 paper
NM_006009.4
p.G321D
c.962G>A
1 paper
NM_006009.4
p.Y319F
c.956A>T
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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."