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.G206R

c.616G>A

Surrounding Variants

1 paper

NM_002481.4

p.G206R

c.616G>C

1 paper

NM_002481.4

p.Q193*

c.577C>T

2 papers

NM_002481.4

p.V182A

c.545T>C

2 papers

NM_002481.4

p.I237V

c.709A>G

1 paper

NM_002481.4

p.S267F

c.800C>T

1 paper

NM_002481.4

p.I268V

c.802A>G

2 papers

NM_002481.4

p.I268N

c.803T>A

1 paper

NM_002481.4

p.R279Q

c.836G>A

1 paper

NM_002481.4

p.K170K

c.510G>A

1 paper

NM_002481.4

p.E166K

c.496G>A

1 paper

NM_002481.4

p.S155R

c.465T>A

1 paper

NM_002481.4

p.S155R

c.465T>G