Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.E423Q

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
2 papers
NM_006009.4
p.E423Q
c.1267G>C
Surrounding Variants
3 papers
NM_006009.4
p.E423K
c.1267G>A
1 paper
NM_006009.4
p.E423V
c.1268A>T
4 papers
NM_006009.4
p.E423G
c.1268A>G
1 paper
NM_006009.4
p.E423A
c.1268A>C
2 papers
NM_006009.4
p.R422L
c.1265G>T
1 paper
NM_006009.4
p.E423D
c.1269G>T
1 paper
NM_006009.4
p.E423D
c.1269G>C
1 paper
NM_006009.4
p.R422P
c.1265G>C
31 papers
NM_006009.4
p.R422H
c.1265G>A
1 paper
NM_006009.4
p.E423E
c.1269G>A
1 paper
NM_006009.4
p.D424Y
c.1270G>T
3 papers
NM_006009.4
p.D424H
c.1270G>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."