Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.L397R

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
1 paper
NM_006009.4
p.L397R
c.1190T>G
Surrounding Variants
22 papers
NM_006009.4
p.L397P
c.1190T>C
1 paper
NM_006009.4
p.L397Q
c.1190T>A
1 paper
NM_006009.4
p.L397V
c.1189C>G
1 paper
NM_006009.4
p.L397M
c.1189C>A
2 papers
NM_006009.4
p.D396E
c.1188C>G
2 papers
NM_006009.4
p.D396E
c.1188C>A
1 paper
NM_006009.4
p.M398L
c.1192A>T
3 papers
NM_006009.4
p.M398V
c.1192A>G
1 paper
NM_006009.4
p.M398L
c.1192A>C
3 papers
NM_006009.4
p.M398R
c.1193T>G
2 papers
NM_006009.4
p.M398T
c.1193T>C
2 papers
NM_006009.4
p.M398K
c.1193T>A
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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."