Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.Y312H

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.Y312H
c.934T>C
Surrounding Variants
1 paper
NM_006009.4
p.Y312D
c.934T>G
1 paper
NM_006009.4
p.Y312N
c.934T>A
1 paper
NM_006009.4
p.Y312F
c.935A>T
1 paper
NM_006009.4
p.K311N
c.933A>T
1 paper
NM_006009.4
p.Y312C
c.935A>G
1 paper
NM_006009.4
p.Y312S
c.935A>C
1 paper
NM_006009.4
p.K311N
c.933A>C
1 paper
NM_006009.4
p.K311I
c.932A>T
1 paper
NM_006009.4
p.K311R
c.932A>G
1 paper
NM_006009.4
p.K311T
c.932A>C
2 papers
NM_006009.4
p.M313L
c.937A>T
3 papers
NM_006009.4
p.M313V
c.937A>G
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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."