Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2A
Variant:p.A248V

TUBB2A

173 papers

RefSeq Summary

Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. D...

Pfam Domains

Tubulinaa 3–212UCSCTubulin/FtsZ family, GTPase domain
Tubulin_Caa 261–383UCSCTubulin C-terminal domain

Gene Aliases

HGNC Name

tubulin beta 2A class IIa

HGNC Previous Symbol

TUBB2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
16 papers
NM_001069.3
p.A248V
c.743C>T
Surrounding Variants
3 papers
NM_001069.3
p.A248T
c.742G>A
1 paper
NM_001069.3
p.D249H
c.745G>C
1 paper
NM_001069.3
p.D249N
c.745G>A
12 papers
NM_001069.3
p.N247K
c.741C>G
12 papers
NM_001069.3
p.N247K
c.741C>A
1 paper
NM_001069.3
p.D249G
c.746A>G
1 paper
NM_001069.3
p.N247S
c.740A>G
1 paper
NM_001069.3
p.D249E
c.747C>G
1 paper
NM_001069.3
p.D249E
c.747C>A
1 paper
NM_001069.3
p.L246P
c.737T>C
1 paper
NM_001069.3
p.L246V
c.736C>G
1 paper
NM_001069.3
p.Q245H
c.735G>T
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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."