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

1–12 of 134 variants

8 papers

NM_017607.4

p.G12V

c.35G>T

6 papers

NM_017607.4

p.E81K

c.241G>A

2 papers

NM_017607.4

p.E4D

c.12G>C

2 papers

NM_017607.4

p.G12R

c.34G>C

2 papers

NM_017607.4

p.G12R

c.34G>A

2 papers

NM_017607.4

p.G12E

c.35G>A

2 papers

NM_017607.4

p.P76L

c.227C>T

2 papers

NM_017607.4

p.G101G

c.303T>C

2 papers

NM_017607.4

p.G124D

c.371G>A

2 papers

NM_017607.4

p.Q545P

c.1634A>C

1 paper

NM_017607.4

p.M1Fs

c.2delinsCTGFs

1 paper

NM_017607.4

p.E4K

c.10G>A