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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TNK1

TNK1

59 papers

RefSeq Summary

The protein encoded by this gene belongs to the tyrosine protein kinase family. Tyrosine protein kinases are important regulators of intracellular signal transduction pathways, mediating cellular prol...

Pfam Domains

SAM_TNKaa 10–65UCSCSAM domain-like

PK_Tyr_Ser-Thraa 116–377UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

tyrosine kinase non receptor 1

HGNC Alias Symbol

KOS1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 59 variants

3 papers

chr17:7384513 C>A

NM_003985.6

p.A299D

c.896C>A

PK_Tyr_Ser-Thr

Exome: 0.8% (AC=11859, hom=77)Genome: 0.6% (AC=890, hom=5)7 overlapping SVs

2 papers

chr17:7383007 T>A

NM_003985.6

p.L27L

c.81T>A

SAM_TNK

Exome: 46.1% (AC=673339, hom=158692)Genome: 39.9% (AC=60728, hom=12658)7 overlapping SVs

2 papers

chr17:7387376 A>G

NM_003985.6

p.G466Splc

c.1398-2A>G

Exome: 6.5% (AC=94024, hom=3800)Genome: 5.6% (AC=8479, hom=341)6 overlapping SVs

1 paper

chr17:7382935 T>C

NM_003985.6

p.P3P

c.9T>C

exact variant not in gnomAD7 overlapping SVs

1 paper

chr17:7382947 C>T

NM_003985.6

p.S7S

c.21C>T

Exome: 38.6% (AC=563863, hom=112814)Genome: 31.8% (AC=48450, hom=9405)7 overlapping SVs

1 paper

chr17:7383041 G>C

NM_003985.6

p.D39H

c.115G>C

SAM_TNK

exact variant not in gnomAD7 overlapping SVs

1 paper

chr17:7383056 G>C

NM_003985.6

p.E44Q

c.130G>C

SAM_TNK

exact variant not in gnomAD7 overlapping SVs

1 paper

chr17:7383074 G>A

NM_003985.6

p.G50S

c.148G>A

SAM_TNK

exact variant not in gnomAD7 overlapping SVs

1 paper

chr17:7383280 G>A

NM_003985.6

p.R65K

c.194G>A

SAM_TNK

Exome: 0.0% (AC=391, hom=2)Genome: 0.0% (AC=14, hom=0)7 overlapping SVs

1 paper

chr17:7383451 C>T

NM_003985.6

p.H87H

c.261C>T

Exome: 0.0% (AC=129, hom=0)Genome: 0.1% (AC=143, hom=1)7 overlapping SVs

1 paper

chr17:7383483 G>A

NM_003985.6

p.R98Q

c.293G>A

Exome: 0.0% (AC=37, hom=0)Genome: 0.0% (AC=3, hom=0)7 overlapping SVs

1 paper

chr17:7383501 A>AG

NM_003985.6

p.E104insFs

c.311_312insG

Exome: 0.0% (AC=254, hom=0)Genome: 0.0% (AC=14, hom=0)7 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."