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

8 papers

NM_017607.4

p.G12V

c.35G>T

Surrounding Variants

1 paper

NM_017607.4

p.G12A

c.35G>C

2 papers

NM_017607.4

p.G12E

c.35G>A

2 papers

NM_017607.4

p.G12R

c.34G>C

2 papers

NM_017607.4

p.G12R

c.34G>A

1 paper

NM_017607.4

p.A8S

c.22G>T

1 paper

NM_017607.4

p.P7A

c.19C>G

1 paper

NM_017607.4

p.A18D

c.53C>A

1 paper

NM_017607.4

p.D5H

c.13G>C

2 papers

NM_017607.4

p.E4D

c.12G>C

1 paper

NM_017607.4

p.E20V

c.59A>T

1 paper

NM_017607.4

p.G12_R19del0

c.36_56del21

1 paper

NM_017607.4

p.E20E

c.60G>A