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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TEKT1

TEKT1

50 papers

RefSeq Summary

This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This g...

Pfam Domains

Tektinaa 16–398UCSCTektin family

Gene Aliases

HGNC Name

tektin 1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 43 variants

3 papers

chr17:6812937 G>C

NM_053285.2

p.T249R

c.746C>G

Tektin

Exome: 0.0% (AC=607, hom=4)Genome: 0.0% (AC=56, hom=0)8 overlapping SVs

3 papers

chr17:6812923 G>A

NM_053285.2

p.R254C

c.760C>T

Tektin

Exome: 21.3% (AC=311558, hom=35150)Genome: 19.0% (AC=28914, hom=3060)8 overlapping SVs

2 papers

chr17:6830353 T>C

NM_053285.2

p.P8P

c.24A>G

Exome: 47.8% (AC=688521, hom=167712)Genome: 56.7% (AC=86310, hom=26555)11 overlapping SVs

2 papers

chr17:6815223 G>A

NM_053285.2

p.S190L

c.569C>T

Tektin

Exome: 0.7% (AC=10430, hom=58)Genome: 0.6% (AC=855, hom=7)8 overlapping SVs

2 papers

chr17:6812988 C>T

NM_053285.2

p.R232Q

c.695G>A

Tektin

Exome: 0.1% (AC=1630, hom=9)Genome: 0.5% (AC=709, hom=5)8 overlapping SVs

2 papers

chr17:6812922 C>T

NM_053285.2

p.R254H

c.761G>A

Tektin

Exome: 0.0% (AC=311, hom=0)Genome: 0.0% (AC=21, hom=0)8 overlapping SVs

2 papers

chr17:6800863 C>A

NM_053285.2

p.K311N

c.933G>T

Tektin

Exome: 0.1% (AC=981, hom=22)Genome: 0.1% (AC=85, hom=3)9 overlapping SVs

2 papers

chr17:6800802 C>T

NM_053285.2

p.V332I

c.994G>A

Tektin

Exome: 7.6% (AC=111157, hom=4521)Genome: 5.6% (AC=8550, hom=299)9 overlapping SVs

2 papers

chr17:6800065 C>G

NM_053285.2

p.V407L

c.1219G>C

Exome: 0.1% (AC=1835, hom=3)Genome: 0.1% (AC=164, hom=0)9 overlapping SVs

1 paper

chr17:6830354 G>A

NM_053285.2

p.P8L

c.23C>T

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=4, hom=0)11 overlapping SVs

1 paper

chr17:6830270 C>T

NM_053285.2

p.R36H

c.107G>A

Tektin

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)11 overlapping SVs

1 paper

chr17:6819347 C>T

NM_053285.2

p.E68K

c.202G>A

Tektin

Exome: 0.0% (AC=281, hom=0)Genome: 0.2% (AC=242, hom=1)9 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."