Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.R320C

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
21 papers
NM_006000.3
p.R320C
c.958C>T
Surrounding Variants
12 papers
NM_006000.3
p.R320H
c.959G>A
1 paper
NM_006000.3
p.D322N
c.964G>A
2 papers
NM_006000.3
p.C316Y
c.947G>A
1 paper
NM_006000.3
p.V323_V324delins
c.967_970delinsAAGT
3 papers
NM_006000.3
p.A314V
c.941C>T
1 paper
NM_006000.3
p.K326N
c.978G>T
1 paper
NM_006000.3
p.K326N
c.978G>C
2 papers
NM_006000.3
p.N329S
c.986A>G
1 paper
NM_006000.3
p.A331V
c.992C>T
1 paper
NM_006000.3
p.R308L
c.923G>T
1 paper
NM_006000.3
p.P307A
c.919C>G
2 papers
NM_006000.3
p.A333V
c.998C>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."