Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.H393Q

TUBA1A

358 papers

RefSeq Summary

Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belo...

Pfam Domains

Tubulinaa 3–214UCSCTubulin/FtsZ family, GTPase domain
Tubulin_Caa 263–393UCSCTubulin C-terminal domain

Gene Aliases

HGNC Name

tubulin alpha 1a

HGNC Alias Symbols

TUBA3; B-ALPHA-1; FLJ25113

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006009.4
p.H393Q
c.1179C>A
Surrounding Variants
1 paper
NM_006009.4
p.H393Q
c.1179C>G
1 paper
NM_006009.4
p.H393L
c.1178A>T
2 papers
NM_006009.4
p.H393R
c.1178A>G
1 paper
NM_006009.4
p.K394E
c.1180A>G
2 papers
NM_006009.4
p.H393P
c.1178A>C
1 paper
NM_006009.4
p.K394Q
c.1180A>C
6 papers
NM_006009.4
p.H393Y
c.1177C>T
1 paper
NM_006009.4
p.H393D
c.1177C>G
1 paper
NM_006009.4
p.H393N
c.1177C>A
2 papers
NM_006009.4
p.K394M
c.1181A>T
3 papers
NM_006009.4
p.K394R
c.1181A>G
1 paper
NM_006009.4
p.K394T
c.1181A>C
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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."