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.D463H

c.1387G>C

Surrounding Variants

1 paper

NM_002481.4

p.R462_D463delins

c.1386_1387delinsAC

1 paper

NM_002481.4

p.I461M

c.1383A>G

1 paper

NM_002481.4

p.R476W

c.1426C>T

1 paper

NM_002481.4

p.H448D

c.1342C>G

1 paper

NM_002481.4

p.L481V

c.1441C>G

1 paper

NM_002481.4

p.E429K

c.1285G>A

1 paper

NM_002481.4

p.Y493N

c.1477T>A

2 papers

NM_002481.4

p.I494V

c.1480A>G

1 paper

NM_002481.4

p.L497L

c.1489C>T

1 paper

NM_002481.4

p.L502insFs

c.1505dupT

1 paper

NM_002481.4

p.S395N

c.1184G>A

1 paper

NM_002481.4

p.N392N

c.1176C>T