Varaico: Literature-Extracted Genetic Variants

PPM1J

61 papers

RefSeq Summary

This gene encodes the serine/threonine protein phosphatase. The mouse homolog of this gene apparently belongs to the protein phosphatase 2C family of genes. The exact function of this gene is not yet ...

Pfam Domains

PP2Caa 209–314UCSCProtein phosphatase 2C

PP2Caa 356–470UCSCProtein phosphatase 2C

Gene Aliases

HGNC Name

protein phosphatase, Mg2+/Mn2+ dependent 1J

HGNC Alias Symbols

FLJ35951; MGC19531; DKFZp434P1514; PP2Czeta; PPP2CZ

Papers

RefSeq ID

Protein change

DNA change

1–12 of 57 variants

8 papers

NM_005167.7

p.L213F

c.639G>T

8 papers

NM_005167.7

p.L213F

c.639G>C

8 papers

NM_005167.7

p.V236I

c.706G>A

4 papers

NM_005167.7

p.R479H

c.1436G>A

3 papers

NM_005167.7

p.I291T

c.872T>C

2 papers

NM_005167.7

p.S192L

c.575C>T

2 papers

NM_005167.7

p.T301_E302delFs

c.903_904delCA

2 papers

NM_005167.7

p.G336R

c.1006G>C

2 papers

NM_005167.7

p.G336R

c.1006G>A

2 papers

NM_005167.7

p.G488R

c.1462G>C

2 papers

NM_005167.7

p.G488R

c.1462G>A

1 paper

NM_005167.7

p.H11fs

c.31_32fs