Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.N293K

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
1 paper
NM_006000.3
p.N293K
c.879T>A
Surrounding Variants
1 paper
NM_006000.3
p.N293K
c.879T>G
1 paper
NM_006000.3
p.I291M
c.873C>G
1 paper
NM_006000.3
p.E297G
c.890A>G
1 paper
NM_006000.3
p.A289V
c.866C>T
4 papers
NM_006000.3
p.L286P
c.857T>C
1 paper
NM_006000.3
p.L286V
c.856C>G
3 papers
NM_006000.3
p.V303L
c.907G>T
3 papers
NM_006000.3
p.V303L
c.907G>C
4 papers
NM_006000.3
p.E284G
c.851A>G
2 papers
NM_006000.3
p.V303G
c.908T>G
7 papers
NM_006000.3
p.E284K
c.850G>A
3 papers
NM_006000.3
p.H283Q
c.849C>G
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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."