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

7 papers

NM_006247.4

p.T75P

c.223A>C

Surrounding Variants

1 paper

NM_006247.4

p.T75delFs

c.225delT

1 paper

NM_006247.4

p.E76K

c.226G>A

3 papers

NM_006247.4

p.E76A

c.227A>C

1 paper

NM_006247.4

p.E76D

c.228G>C

1 paper

NM_006247.4

p.C77Y

c.230G>A

1 paper

NM_006247.4

p.G79del1

c.235_237delGGC

1 paper

NM_006247.4

p.A81T

c.241G>A

1 paper

NM_006247.4

p.R68C

c.202C>T

1 paper

NM_006247.4

p.Y65*

c.195T>A

1 paper

NM_006247.4

p.Y65*

c.195T>G

1 paper

NM_006247.4

p.A85delFs

c.253delG

1 paper

NM_006247.4

p.T86A

c.256A>G