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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPP1R14C

PPP1R14C

16 papers

RefSeq Summary

The degree of protein phosphorylation is regulated by a balance of protein kinase and phosphatase activities. Protein phosphatase-1 (PP1; see MIM 176875) is a signal-transducing phosphatase that influ...

Pfam Domains

PP1_inhibitoraa 38–165UCSCPKC-activated protein phosphatase-1 inhibitor

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory inhibitor subunit 14C

HGNC Alias Symbols

CPI17-like; NY-BR-81; KEPI

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr6:150143220 A>G

NM_030949.3

p.T10A

c.28A>G

Exome: 43.2% (AC=523325, hom=117302)Genome: 52.1% (AC=79004, hom=22048)48 overlapping SVs

2 papers

chr6:150143409 A>G

NM_030949.3

p.T73A

c.217A>G

PP1_inhibitor

exact variant not in gnomAD48 overlapping SVs

1 paper

chr6:150143290 GC>G

NM_030949.3

p.P34delFs

c.102delC

Exome: 0.0% (AC=0, hom=0)Genome: n/a48 overlapping SVs

1 paper

chr6:150143295 GGC>N

NM_030949.3

p.G35fs

c.103_104fs

exact variant not in gnomAD48 overlapping SVs

1 paper

chr6:150143341 T>G

NM_030949.3

p.V50G

c.149T>G

PP1_inhibitor

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=2, hom=0)48 overlapping SVs

1 paper

chr6:150143391 C>T

NM_030949.3

p.H67Y

c.199C>T

PP1_inhibitor

Exome: 0.0% (AC=1, hom=0)Genome: n/a48 overlapping SVs

1 paper

chr6:150143457 G>T

NM_030949.3

p.E89*

c.265G>T

PP1_inhibitor

exact variant not in gnomAD48 overlapping SVs

1 paper

chr6:150216852 C>A

NM_030949.3

p.T140K

c.419C>A

PP1_inhibitor

Exome: 0.0% (AC=0, hom=0)Genome: n/a47 overlapping SVs

1 paper

chr6:150248784 G>A

NM_030949.3

p.M154I

c.462G>A

PP1_inhibitor

exact variant not in gnomAD47 overlapping SVs

1 paper

chr6:150248784 G>C

NM_030949.3

p.M154I

c.462G>C

PP1_inhibitor

exact variant not in gnomAD47 overlapping SVs

1 paper

chr6:150248784 G>T

NM_030949.3

p.M154I

c.462G>T

PP1_inhibitor

exact variant not in gnomAD47 overlapping SVs

1 paper

chr6:150248801 C>T

NM_030949.3

p.P160L

c.479C>T

PP1_inhibitor

Exome: 0.1% (AC=1273, hom=0)Genome: 0.0% (AC=74, hom=0)47 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."