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

1–12 of 77 variants

4 papers

NM_002481.4

p.W830_H831Splc

c.2490+1G>T

2 papers

NM_002481.4

p.Q97K

c.289C>A

2 papers

NM_002481.4

p.V182A

c.545T>C

2 papers

NM_002481.4

p.I237V

c.709A>G

2 papers

NM_002481.4

p.I268N

c.803T>A

2 papers

NM_002481.4

p.I494V

c.1480A>G

2 papers

NM_002481.4

p.R675H

c.2024G>A

2 papers

NM_002481.4

p.R804Q

c.2411G>A

1 paper

NM_002481.4

p.G8G

c.24A>T

1 paper

NM_002481.4

p.S14A

c.40T>G

1 paper

NM_002481.4

p.Q22*

c.64C>T

1 paper

NM_002481.4

p.L23F

c.67C>T