Varaico: Literature-Extracted Genetic Variants

PPP5C

440 papers

RefSeq Summary

This gene encodes a serine/threonine phosphatase which is a member of the protein phosphatase catalytic subunit family. Proteins in this family participate in pathways regulated by reversible phosphor...

Pfam Domains

TPR_1aa 28–61UCSCTetratricopeptide repeat

PPP5aa 136–228UCSCPPP5 TPR repeat region

Metallophosaa 235–431UCSCCalcineurin-like phosphoesterase

Gene Aliases

HGNC Name

protein phosphatase 5 catalytic subunit

HGNC Previous Symbol

PPP5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006247.4

p.K347R

c.1040A>G

Surrounding Variants

1 paper

NM_006247.4

p.L338H

c.1013T>A

1 paper

NM_006247.4

p.A325insFs

c.974dupC

1 paper

NM_006247.4

p.A325insFs

c.973dupG

1 paper

NM_006247.4

p.K320del1

c.958_960delAAG

1 paper

NM_006247.4

p.G317insFs

c.950dupG

1 paper

NM_006247.4

p.N308D

c.922A>G

6 papers

NM_006247.4

p.H304Q

c.912C>A

6 papers

NM_006247.4

p.H304Q

c.912C>G

1 paper

NM_006247.4

p.H304N

c.910C>A

1 paper

NM_006247.4

p.H304Y

c.910C>T

1 paper

NM_006247.4

p.G302delFs

c.905delG

1 paper

NM_006247.4

p.G302Splc

c.905-3C>T