Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.D127E

TUBA4A

320 papers

RefSeq Summary

Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are p...

Pfam Domains

Tubulinaa 3–214UCSCTubulin/FtsZ family, GTPase domain
Tubulin_Caa 263–393UCSCTubulin C-terminal domain

Gene Aliases

HGNC Name

tubulin alpha 4a

HGNC Previous Symbol

TUBA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_006000.3
p.D127E
c.381C>A
Surrounding Variants
3 papers
NM_006000.3
p.D127E
c.381C>G
1 paper
NM_006000.3
p.D127V
c.380A>T
17 papers
NM_006000.3
p.Q128L
c.383A>T
1 paper
NM_006000.3
p.T130P
c.388A>C
1 paper
NM_006000.3
p.G131fs
c.391_392fs
1 paper
NM_006000.3
p.V137V
c.411G>A
3 papers
NM_006000.3
p.S140G
c.418A>G
1 paper
NM_006000.3
p.G144S
c.430G>A
1 paper
NM_006000.3
p.G142_G143del2
c.424_428del6
16 papers
NM_006000.3
p.T145P
c.433A>C
1 paper
NM_006000.3
p.G146C
c.436G>T
1 paper
NM_006000.3
p.G148D
c.443G>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."