Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.S419L

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
23 papers
NM_006009.4
p.S419L
c.1256C>T
Surrounding Variants
1 paper
NM_006009.4
p.S419A
c.1255T>G
1 paper
NM_006009.4
p.S419P
c.1255T>C
2 papers
NM_006009.4
p.S419T
c.1255T>A
2 papers
NM_006009.4
p.F418L
c.1254T>G
2 papers
NM_006009.4
p.F418L
c.1254T>A
1 paper
NM_006009.4
p.E420Q
c.1258G>C
1 paper
NM_006009.4
p.E420K
c.1258G>A
1 paper
NM_006009.4
p.F418C
c.1253T>G
1 paper
NM_006009.4
p.F418S
c.1253T>C
1 paper
NM_006009.4
p.F418Y
c.1253T>A
1 paper
NM_006009.4
p.E420V
c.1259A>T
1 paper
NM_006009.4
p.E420G
c.1259A>G
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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."