Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.C200Y

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
7 papers
NM_006009.4
p.C200Y
c.599G>A
Surrounding Variants
3 papers
NM_006009.4
p.C200R
c.598T>C
1 paper
NM_006009.4
p.A201T
c.601G>A
3 papers
NM_006009.4
p.A201V
c.602C>T
1 paper
NM_006009.4
p.A201D
c.602C>A
4 papers
NM_006009.4
p.D199G
c.596A>G
2 papers
NM_006009.4
p.F202S
c.605T>C
1 paper
NM_006009.4
p.M203V
c.607A>G
1 paper
NM_006009.4
p.M203T
c.608T>C
1 paper
NM_006009.4
p.H197R
c.590A>G
1 paper
NM_006009.4
p.M203I
c.609G>T
1 paper
NM_006009.4
p.M203I
c.609G>C
1 paper
NM_006009.4
p.M203I
c.609G>A
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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."