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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TUBE1

TUBE1

39 papers

RefSeq Summary

This gene encodes a member of the tubulin superfamily. This protein localizes to the centriolar sub-distal appendages that are associated with the older of the two centrioles after centrosome duplicat...

Pfam Domains

Tubulinaa 3–219UCSCTubulin/FtsZ family, GTPase domain

Tubulin_Caa 294–414UCSCTubulin C-terminal domain

Gene Aliases

HGNC Name

tubulin epsilon 1

HGNC Alias Symbols

dJ142L7.2; FLJ22589

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 28 variants

2 papers

chr6:112076037 T>A

NM_016262.5

p.S238C

c.712A>T

Exome: 0.0% (AC=215, hom=1)Genome: 0.0% (AC=14, hom=0)80 overlapping SVs

2 papers

chr6:112076033 A>C

NM_016262.5

p.L239R

c.716T>G

Exome: 0.2% (AC=2212, hom=49)Genome: 1.3% (AC=1931, hom=39)80 overlapping SVs

1 paper

chr6:112087433 A>G

NM_016262.5

p.M1T

c.2T>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a81 overlapping SVs

1 paper

chr6:112086572 T>C

NM_016262.5

p.R46G

c.136A>G

Tubulin

exact variant not in gnomAD81 overlapping SVs

1 paper

chr6:112084206 A>G

NM_016262.5

p.C65R

c.193T>C

Tubulin

Exome: 0.0% (AC=156, hom=0)Genome: 0.0% (AC=9, hom=0)80 overlapping SVs

1 paper

chr6:112081170 T>A

NM_016262.5

p.E83V

c.248A>T

Tubulin

exact variant not in gnomAD80 overlapping SVs

1 paper

chr6:112081134 G>A

NM_016262.5

p.T95M

c.284C>T

Tubulin

Exome: 0.0% (AC=15, hom=0)Genome: 0.0% (AC=3, hom=0)80 overlapping SVs

1 paper

chr6:112079743 T>C

NM_016262.5

p.H113R

c.338A>G

Tubulin

Exome: 0.0% (AC=74, hom=1)Genome: 0.0% (AC=7, hom=0)80 overlapping SVs

1 paper

chr6:112079722 T>C

NM_016262.5

p.Y120C

c.359A>G

Tubulin

exact variant not in gnomAD80 overlapping SVs

1 paper

chr6:112079675 C>A

NM_016262.5

p.D136Y

c.406G>T

Tubulin

exact variant not in gnomAD80 overlapping SVs

1 paper

chr6:112076462 C>T

NM_016262.5

p.E166K

c.496G>A

Tubulin

Exome: 0.0% (AC=538, hom=0)Genome: 0.0% (AC=25, hom=0)81 overlapping SVs

1 paper

chr6:112076410 T>G

NM_016262.5

p.D183A

c.548A>C

Tubulin

exact variant not in gnomAD80 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."