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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ROCK2

Variant:p.R26H

ROCK2

198 papers

RefSeq Summary

The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the...

Pfam Domains

Pkinaseaa 92–354UCSCProtein kinase domain

Rho_Bindingaa 978–1046UCSCRho Binding

PH_MRCKaa 1149–1257UCSCMRCK kinase PH domain

Gene Aliases

HGNC Name

Rho associated coiled-coil containing protein kinase 2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:11344060 C>T

NM_004850.5

p.R26H

c.77G>A

Exome: 0.0% (AC=5, hom=0)Genome: n/a51 overlapping SVs

Surrounding Variants

2 papers

chr2:11344021 G>A

NM_004850.5

p.S39F

c.116C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a51 overlapping SVs

1 paper

chr2:11344019 G>A

NM_004850.5

p.P40S

c.118C>T

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=9, hom=0)51 overlapping SVs

3 papers

chr2:11344102 C>T

NM_004850.5

p.G12D

c.35G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a51 overlapping SVs

3 papers

chr2:11344016 T>C

NM_004850.5

p.I41V

c.121A>G

Exome: 0.2% (AC=2904, hom=6)Genome: 0.1% (AC=176, hom=0)51 overlapping SVs

1 paper

chr2:11344116 C>CGTTAG

NM_004850.5

p.T7insFs

c.19_20ins5

exact variant not in gnomAD51 overlapping SVs

1 paper

chr2:11344003 CT>C

NM_004850.5

p.S45delFs

c.133delT

exact variant not in gnomAD51 overlapping SVs

1 paper

chr2:11343995 C>T

NM_004850.5

p.L47_D48Splc

c.141+1G>A

exact variant not in gnomAD51 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."