Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R17
Variant:p.D136G

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
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006658.5
p.D136G
c.407A>G
Surrounding Variants
2 papers
NM_006658.5
p.V143M
c.427G>A
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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."