Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.R221H

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.R221H
c.662G>A
Surrounding Variants
1 paper
NM_006000.3
p.R221P
c.662G>C
1 paper
NM_006000.3
p.D218Y
c.652G>T
5 papers
NM_006000.3
p.L227F
c.679C>T
4 papers
NM_006000.3
p.R215H
c.644G>A
18 papers
NM_006000.3
p.R215C
c.643C>T
4 papers
NM_006000.3
p.R214H
c.641G>A
1 paper
NM_006000.3
p.R214C
c.640C>T
4 papers
NM_006000.3
p.R229C
c.685C>T
1 paper
NM_006000.3
p.R229H
c.686G>A
1 paper
NM_006000.3
p.S232C
c.694A>T
1 paper
NM_006000.3
p.S232R
c.694A>C
1 paper
NM_006000.3
p.Y210C
c.629A>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."