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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPP1R17

PPP1R17

28 papers

RefSeq Summary

The protein encoded by this gene is found primarily in cerebellar Purkinje cells, where it functions as a protein phosphatase inhibitor. The encoded protein is a substrate for cGMP-dependent protein k...

Pfam Domains

PPP1R17aa 1–155UCSCProtein phosphatase 1 regulatory subunit 17

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory subunit 17

HGNC Previous Symbol

C7orf16

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr7:31707222 A>G

NM_006658.5

p.D136G

c.407A>G

PPP1R17

Exome: 0.0% (AC=4, hom=0)Genome: n/a90 overlapping SVs

2 papers

chr7:31707242 G>A

NM_006658.5

p.V143M

c.427G>A

PPP1R17

Exome: 0.0% (AC=46, hom=1)Genome: 0.0% (AC=9, hom=0)90 overlapping SVs

1 paper

chr7:31692443 T>C

NM_006658.5

p.M1T

c.2T>C

PPP1R17

Exome: 0.0% (AC=3, hom=0)Genome: n/a90 overlapping SVs

1 paper

chr7:31692475 C>G

NM_006658.5

p.L12V

c.34C>G

PPP1R17

Exome: 11.7% (AC=170788, hom=10939)Genome: 12.9% (AC=19703, hom=1388)90 overlapping SVs

1 paper

chr7:31695541 C>A

NM_006658.5

p.A52D

c.155C>A

PPP1R17

exact variant not in gnomAD91 overlapping SVs

1 paper

chr7:31695555 G>A

NM_006658.5

p.E57K

c.169G>A

PPP1R17

Exome: 0.0% (AC=3, hom=0)Genome: n/a91 overlapping SVs

1 paper

chr7:31695573 C>A

NM_006658.5

p.P63T

c.187C>A

PPP1R17

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=2, hom=0)91 overlapping SVs

1 paper

chr7:31695586 A>T

NM_006658.5

p.D67V

c.200A>T

PPP1R17

exact variant not in gnomAD91 overlapping SVs

1 paper

chr7:31696988 A>C

NM_006658.5

p.K87Q

c.259A>C

PPP1R17

exact variant not in gnomAD91 overlapping SVs

1 paper

chr7:31696996 C>G

NM_006658.5

p.Y89*

c.267C>G

PPP1R17

Exome: 0.0% (AC=1, hom=0)Genome: n/a91 overlapping SVs

1 paper

chr7:31697007 A>T

NM_006658.5

p.E93V

c.278A>T

PPP1R17

exact variant not in gnomAD91 overlapping SVs

1 paper

chr7:31697016 C>A

NM_006658.5

p.P96Q

c.287C>A

PPP1R17

exact variant not in gnomAD91 overlapping SVs

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