Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.L195P

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.L195P
c.584T>C
Surrounding Variants
2 papers
NM_006009.4
p.E196K
c.586G>A
1 paper
NM_006009.4
p.H197R
c.590A>G
1 paper
NM_006009.4
p.H192R
c.575A>G
4 papers
NM_006009.4
p.D199G
c.596A>G
3 papers
NM_006009.4
p.C200R
c.598T>C
7 papers
NM_006009.4
p.C200Y
c.599G>A
1 paper
NM_006009.4
p.T190I
c.569C>T
1 paper
NM_006009.4
p.T190N
c.569C>A
1 paper
NM_006009.4
p.S187_T190Fs
c.560_568delinsTGGTTACCATCATCFs
1 paper
NM_006009.4
p.A201T
c.601G>A
3 papers
NM_006009.4
p.A201V
c.602C>T
1 paper
NM_006009.4
p.A201D
c.602C>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."