Varaico: Literature-Extracted Genetic Variants

PPP1R12A

160 papers

RefSeq Summary

Myosin phosphatase target subunit 1, which is also called the myosin-binding subunit of myosin phosphatase, is one of the subunits of myosin phosphatase. Myosin phosphatase regulates the interaction o...

Pfam Domains

Ankaa 72–104UCSCAnkyrin repeat

Ankaa 105–137UCSCAnkyrin repeat

Ankaa 198–230UCSCAnkyrin repeat

Ankaa 231–263UCSCAnkyrin repeat

PRKG1_interactaa 931–1030UCSCcGMP-dependent protein kinase interacting domain

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory subunit 12A

HGNC Previous Symbol

MYPT1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 167 variants

4 papers

NM_002480.3

p.T696A

c.2086A>G

4 papers

NM_002480.3

p.R900*

c.2698C>T

3 papers

NM_002480.3

p.T75fs

c.223_224fs

3 papers

NM_002480.3

p.K228*

c.682A>T

3 papers

NM_002480.3

p.V264_G265Splc

c.793-1G>A

3 papers

NM_002480.3

p.E321fs

c.961_962fs

3 papers

NM_002480.3

p.T397fs

c.1189_1190fs

3 papers

NM_002480.3

p.S472*

c.1415C>G

3 papers

NM_002480.3

p.S472*

c.1415C>A

3 papers

NM_002480.3

p.R504*

c.1510C>T

3 papers

NM_002480.3

p.S692fs

c.2074_2075fs

3 papers

NM_002480.3

p.D752fs

c.2254_2255fs