Varaico: Literature-Extracted Genetic Variants

PPP1R12C

389 papers

RefSeq Summary

The gene encodes a subunit of myosin phosphatase. The encoded protein regulates the catalytic activity of protein phosphatase 1 delta and assembly of the actin cytoskeleton. Alternatively spliced tran...

Pfam Domains

Ank_2aa 55–164UCSCAnkyrin repeats (3 copies)

Ank_2aa 202–311UCSCAnkyrin repeats (3 copies)

PRKG1_interactaa 682–782UCSCcGMP-dependent protein kinase interacting domain

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory subunit 12C

HGNC Previous Symbol

LENG3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017607.4

p.R503W

c.1507A>T

Surrounding Variants

1 paper

NM_017607.4

p.S502_R503insYA

c.1504_1508ins6

1 paper

NM_017607.4

p.P493delins

c.1478_1479delinsTT

1 paper

NM_017607.4

p.P513T

c.1537C>A

1 paper

NM_017607.4

p.S486F

c.1457C>T

1 paper

NM_017607.4

p.D528G

c.1583A>G

1 paper

NM_017607.4

p.R530Q

c.1589G>A

1 paper

NM_017607.4

p.D528_R531delFs

c.1584_1591del8

1 paper

NM_017607.4

p.R531Splc

c.1592+6G>A

2 papers

NM_017607.4

p.Q545P

c.1634A>C

1 paper

NM_017607.4

p.Q555*

c.1663C>T

1 paper

NM_017607.4

p.R557P

c.1670G>C

1 paper

NM_017607.4

p.S559A

c.1675T>G