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

4 papers

NM_002481.4

p.W830_H831Splc

c.2490+1G>T

Surrounding Variants

1 paper

NM_002481.4

p.K815M

c.2444A>T

1 paper

NM_002481.4

p.T808I

c.2423C>T

2 papers

NM_002481.4

p.R804Q

c.2411G>A

1 paper

NM_002481.4

p.S794F

c.2381C>T

1 paper

NM_002481.4

p.S742L

c.2225C>T

1 paper

NM_002481.4

p.S739S

c.2217A>G

1 paper

NM_002481.4

p.S739L

c.2216C>T

1 paper

NM_002481.4

p.E715_P716Splc

c.2145+8C>A

1 paper

NM_002481.4

p.E715*

c.2143G>T

1 paper

NM_002481.4

p.E714K

c.2140G>A

1 paper

NM_002481.4

p.G704A

c.2111G>C

2 papers

NM_002481.4

p.R675H

c.2024G>A