Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.E196K

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.E196K
c.586G>A
Surrounding Variants
1 paper
NM_006000.3
p.H192Q
c.576C>G
1 paper
NM_006000.3
p.A201T
c.601G>A
2 papers
NM_006000.3
p.I188L
c.562A>C
1 paper
NM_006000.3
p.V204E
c.611T>A
1 paper
NM_006000.3
p.D205N
c.613G>A
1 paper
NM_006000.3
p.N206I
c.617A>T
1 paper
NM_006000.3
p.N206N
c.618C>T
1 paper
NM_006000.3
p.Y185C
c.554A>G
1 paper
NM_006000.3
p.E207K
c.619G>A
1 paper
NM_006000.3
p.E207A
c.620A>C
1 paper
NM_006000.3
p.V182_E183delFs
c.546_547delCG
6 papers
NM_006000.3
p.E183Q
c.547G>C
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."