Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.I384F

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.I384F
c.1150A>T
Surrounding Variants
20 papers
NM_006000.3
p.A383T
c.1147G>A
1 paper
NM_006000.3
p.A385V
c.1154C>T
1 paper
NM_006000.3
p.T382insFs
c.1145_1146insA
2 papers
NM_006000.3
p.E386K
c.1156G>A
8 papers
NM_006000.3
p.T381M
c.1142C>T
1 paper
NM_006000.3
p.S379R
c.1137C>G
1 paper
NM_006000.3
p.S379R
c.1137C>A
1 paper
NM_006000.3
p.S379R
c.1135A>C
1 paper
NM_006000.3
p.R390C
c.1168C>T
2 papers
NM_006000.3
p.R390H
c.1169G>A
2 papers
NM_006000.3
p.V375M
c.1123G>A
3 papers
NM_006000.3
p.H393fs
c.1177_1178fs
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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."