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.G101G

c.303T>C

Surrounding Variants

1 paper

NM_017607.4

p.I102T

c.305T>C

1 paper

NM_017607.4

p.H106Y

c.316C>T

1 paper

NM_017607.4

p.H106Q

c.318C>A

1 paper

NM_017607.4

p.S96C

c.287C>G

1 paper

NM_017607.4

p.A85G

c.254C>G

1 paper

NM_017607.4

p.A85P

c.253G>C

1 paper

NM_017607.4

p.D83G

c.248A>G

6 papers

NM_017607.4

p.E81K

c.241G>A

2 papers

NM_017607.4

p.P76L

c.227C>T

1 paper

NM_017607.4

p.R72S

c.214C>A

1 paper

NM_017607.4

p.D63G

c.188A>G

1 paper

NM_017607.4

p.E54K

c.160G>A