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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TUBA3E

TUBA3E

67 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 3e

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 77 variants

5 papers

chr2:130194376 G>A

NM_207312.3

p.R156W

c.466C>T

Tubulin

Exome: 39.3% (AC=572421, hom=110513)Genome: 37.9% (AC=56262, hom=10304)148 overlapping SVs

5 papers

chr2:130194199 G>A

NM_207312.3

p.R215C

c.643C>T

Tubulin

Exome: 0.0% (AC=80, hom=0)Genome: 0.0% (AC=6, hom=0)148 overlapping SVs

4 papers

chr2:130195152 C>T

NM_207312.3

p.S101N

c.302G>A

Tubulin

Exome: 40.5% (AC=559172, hom=125893)Genome: 51.3% (AC=77651, hom=21973)150 overlapping SVs

4 papers

chr2:130194465 G>A

NM_207312.3

p.A126V

c.377C>T

Tubulin

Exome: 33.3% (AC=367254, hom=86268)Genome: 35.1% (AC=52207, hom=9107)148 overlapping SVs

4 papers

chr2:130191980 A>G

NM_207312.3

p.W402R

c.1204T>C

Exome: 38.2% (AC=519604, hom=111754)Genome: 40.3% (AC=60989, hom=12495)148 overlapping SVs

4 papers

chr2:130191980 A>T

NM_207312.3

p.W402R

c.1204T>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a148 overlapping SVs

3 papers

chr2:130194181 G>T

NM_207312.3

p.R221S

c.661C>A

Exome: 35.9% (AC=522823, hom=66426)Genome: 34.1% (AC=50946, hom=7616)148 overlapping SVs

2 papers

chr2:130196221 A>G

NM_207312.3

p.F52L

c.154T>C

Tubulin

exact variant not in gnomAD150 overlapping SVs

2 papers

chr2:130196219 G>C

NM_207312.3

p.F52L

c.156C>G

Tubulin

Exome: n/aGenome: 0.0% (AC=2, hom=0)150 overlapping SVs

2 papers

chr2:130196219 G>T

NM_207312.3

p.F52L

c.156C>A

Tubulin

exact variant not in gnomAD150 overlapping SVs

2 papers

chr2:130195145 G>A

NM_207312.3

p.Y103Y

c.309C>T

Tubulin

Exome: 39.1% (AC=538245, hom=115129)Genome: 40.6% (AC=61428, hom=12612)150 overlapping SVs

2 papers

chr2:130194275 T>C

NM_207312.3

p.L189L

c.567A>G

Tubulin

Exome: 22.2% (AC=273623, hom=81699)Genome: 43.1% (AC=59569, hom=12134)148 overlapping SVs

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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."