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.R309Q

c.926G>A

Surrounding Variants

1 paper

NM_002481.4

p.R315Q

c.944G>A

1 paper

NM_002481.4

p.D322H

c.964G>C

1 paper

NM_002481.4

p.Q328*

c.982C>T

1 paper

NM_002481.4

p.A371T

c.1111G>A

1 paper

NM_002481.4

p.A290T

c.868G>A

1 paper

NM_002481.4

p.L282_G283Splc

c.847-144C>T

1 paper

NM_002481.4

p.R279Q

c.836G>A

2 papers

NM_002481.4

p.I268N

c.803T>A

1 paper

NM_002481.4

p.I268V

c.802A>G

1 paper

NM_002481.4

p.S267F

c.800C>T

2 papers

NM_002481.4

p.I237V

c.709A>G

1 paper

NM_002481.4

p.S391Y

c.1172C>A