Varaico: Literature-Extracted Genetic Variants

PPP1R12B

80 papers

RefSeq Summary

Myosin phosphatase is a protein complex comprised of three subunits: a catalytic subunit (PP1c-delta, protein phosphatase 1, catalytic subunit delta), a large regulatory subunit (MYPT, myosin phosphat...

Pfam Domains

Ank_2aa 61–154UCSCAnkyrin repeats (3 copies)

Ank_4aa 62–111UCSCAnkyrin repeats (many copies)

Ankaa 123–155UCSCAnkyrin repeat

Ank_2aa 194–281UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory subunit 12B

HGNC Previous Symbol

MYPT2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002481.4

p.E515*

c.1543G>T

Surrounding Variants

1 paper

NM_002481.4

p.S516P

c.1546T>C

1 paper

NM_002481.4

p.R528G

c.1582C>G

1 paper

NM_002481.4

p.R528W

c.1582C>T

1 paper

NM_002481.4

p.P541T

c.1621C>A

1 paper

NM_002481.4

p.I544V

c.1630A>G

1 paper

NM_002481.4

p.P546S

c.1636C>T

1 paper

NM_002481.4

p.S551*

c.1652C>A

1 paper

NM_002481.4

p.S551*

c.1652C>G

1 paper

NM_002481.4

p.L502insFs

c.1505dupT

1 paper

NM_002481.4

p.L497L

c.1489C>T

2 papers

NM_002481.4

p.I494V

c.1480A>G

1 paper

NM_002481.4

p.Y493N

c.1477T>A