Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.N249D

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.N249D
c.745A>G
Surrounding Variants
2 papers
NM_006009.4
p.N249S
c.746A>G
1 paper
NM_006009.4
p.L248P
c.743T>C
1 paper
NM_006009.4
p.V250F
c.748G>T
1 paper
NM_006009.4
p.V250A
c.749T>C
2 papers
NM_006009.4
p.A247A
c.741C>G
1 paper
NM_006009.4
p.A247T
c.739G>A
1 paper
NM_006009.4
p.G246V
c.737G>T
2 papers
NM_006009.4
p.G246E
c.737G>A
1 paper
NM_006009.4
p.D251E
c.753C>G
1 paper
NM_006009.4
p.D251E
c.753C>A
1 paper
NM_006009.4
p.G246R
c.736G>C
1 paper
NM_006009.4
p.G246R
c.736G>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."