Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.R422H

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.R422H
c.1265G>A
Surrounding Variants
2 papers
NM_006000.3
p.E423K
c.1267G>A
1 paper
NM_006000.3
p.E420D
c.1260G>T
1 paper
NM_006000.3
p.E420D
c.1260G>C
1 paper
NM_006000.3
p.E420A
c.1259A>C
1 paper
NM_006000.3
p.M425K
c.1274T>A
1 paper
NM_006000.3
p.A427V
c.1280C>T
1 paper
NM_006000.3
p.A427G
c.1280C>G
1 paper
NM_006000.3
p.E415D
c.1245G>T
1 paper
NM_006000.3
p.E429Q
c.1285G>C
1 paper
NM_006000.3
p.E415D
c.1245G>C
1 paper
NM_006000.3
p.E429G
c.1286A>G
7 papers
NM_006000.3
p.E415K
c.1243G>A
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."