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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARPP19

ARPP19

14 papers

RefSeq Summary

The 19-kD cAMP-regulated phosphoprotein plays a role in regulating mitosis by inhibiting protein phosphatase-2A (PP2A; see MIM 176915) (summary by Gharbi-Ayachi et al., 2010 [PubMed 21164014]).[suppli...

Pfam Domains

Endosulfineaa 40–128UCSCcAMP-regulated phosphoprotein/endosulfine conserved region

Gene Aliases

HGNC Name

cAMP regulated phosphoprotein 19

HGNC Alias Symbols

ARPP-19; ARPP-16; ARPP16; ENSAL

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr15:52557175 T>C

NM_006628.6

p.K31K

c.93A>G

Endosulfine

Exome: 0.0% (AC=294, hom=2)Genome: 0.2% (AC=309, hom=1)13 overlapping SVs

1 paper

chr15:52557173 A>T

NM_006628.6

p.L32*

c.95T>A

Endosulfine

Exome: 0.0% (AC=1, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr15:52552089 A>C

NM_006628.6

p.S62A

c.184T>G

Endosulfine

exact variant not in gnomAD13 overlapping SVs

1 paper

chr15:52551967 C>T

NM_006628.6

p.K102K

c.306G>A

Endosulfine

exact variant not in gnomAD13 overlapping SVs

1 paper

chr15:52551935 C>A

NM_006628.6

p.*113L

c.338G>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a13 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."