Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.T130M

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
1 paper
NM_006009.4
p.T130M
c.389C>T
Surrounding Variants
1 paper
NM_006009.4
p.T130S
c.388A>T
1 paper
NM_006009.4
p.Q128delFs
c.383delT
1 paper
NM_006009.4
p.L132F
c.394C>T
2 papers
NM_006009.4
p.Q128L
c.383A>T
4 papers
NM_006009.4
p.D127E
c.381C>G
5 papers
NM_006009.4
p.D127E
c.381C>A
4 papers
NM_006009.4
p.D127N
c.379G>A
1 paper
NM_006009.4
p.V137L
c.409G>C
12 papers
NM_006009.4
p.V137D
c.410T>A
1 paper
NM_006009.4
p.F138L
c.412T>C
1 paper
NM_006009.4
p.F138L
c.414C>G
1 paper
NM_006009.4
p.F138L
c.414C>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."