Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.P173S

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
2 papers
NM_006000.3
p.P173S
c.517C>T
Surrounding Variants
1 paper
NM_006000.3
p.P173fs
c.517_518fs
2 papers
NM_006000.3
p.P173L
c.518C>T
3 papers
NM_006000.3
p.P173R
c.518C>G
1 paper
NM_006000.3
p.Y172*
c.516C>G
1 paper
NM_006000.3
p.Y172*
c.516C>A
1 paper
NM_006000.3
p.Q176Q
c.528G>A
1 paper
NM_006000.3
p.V177M
c.529G>A
1 paper
NM_006000.3
p.S178F
c.533C>T
1 paper
NM_006000.3
p.L167P
c.500T>C
2 papers
NM_006000.3
p.T179S
c.535A>T
1 paper
NM_006000.3
p.T179P
c.535A>C
3 papers
NM_006000.3
p.T179I
c.536C>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."