Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.L227Q

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.L227Q
c.680T>A
Surrounding Variants
2 papers
NM_006009.4
p.L227L
c.679C>T
1 paper
NM_006009.4
p.N228S
c.683A>G
1 paper
NM_006009.4
p.N226S
c.677A>G
1 paper
NM_006009.4
p.N226H
c.676A>C
1 paper
NM_006009.4
p.T225I
c.674C>T
1 paper
NM_006009.4
p.R229S
c.687G>C
1 paper
NM_006009.4
p.Y224F
c.671A>T
1 paper
NM_006009.4
p.Y224C
c.671A>G
2 papers
NM_006009.4
p.I231L
c.691A>T
1 paper
NM_006009.4
p.I231V
c.691A>G
3 papers
NM_006009.4
p.I231L
c.691A>C
1 paper
NM_006009.4
p.I231T
c.692T>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."