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

2 papers

NM_017607.4

p.G124D

c.371G>A

Surrounding Variants

1 paper

NM_017607.4

p.G124G

c.372C>G

1 paper

NM_017607.4

p.T126N

c.377C>A

1 paper

NM_017607.4

p.V121V

c.363G>A

1 paper

NM_017607.4

p.V117M

c.349G>A

1 paper

NM_017607.4

p.T136M

c.407C>T

1 paper

NM_017607.4

p.D111E

c.333T>G

1 paper

NM_017607.4

p.D111E

c.333T>A

1 paper

NM_017607.4

p.H139Y

c.415C>T

1 paper

NM_017607.4

p.D148V

c.443A>T

1 paper

NM_017607.4

p.L154M

c.460C>A

1 paper

NM_017607.4

p.G167_D168insFs

c.501_502insC

1 paper

NM_017607.4

p.P170R

c.509C>G