Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.R229C

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
4 papers
NM_006000.3
p.R229C
c.685C>T
Surrounding Variants
1 paper
NM_006000.3
p.R229H
c.686G>A
5 papers
NM_006000.3
p.L227F
c.679C>T
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.S232R
c.696C>G
1 paper
NM_006000.3
p.S232R
c.696C>A
3 papers
NM_006000.3
p.I234T
c.701T>C
1 paper
NM_006000.3
p.V235L
c.703G>C
1 paper
NM_006000.3
p.R221P
c.662G>C
1 paper
NM_006000.3
p.R221H
c.662G>A
2 papers
NM_006000.3
p.I238V
c.712A>G
1 paper
NM_006000.3
p.T239I
c.716C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."