Varaico: Literature-Extracted Genetic Variants

PPP1R18

44 papers

RefSeq Summary

Protein phosphatase-1 (PP1; see MIM 176875) interacts with regulatory subunits that target the enzyme to different cellular locations and change its activity toward specific substrates. Phostensin is ...

Pfam Domains

Phostensin_Naa 28–116UCSCPP1-regulatory protein, Phostensin N-terminal

Phostensinaa 438–560UCSCPhostensin PP1-binding and SH3-binding region

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory subunit 18

HGNC Previous Symbol

KIAA1949

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_133471.4

p.K8E

c.22A>G

Surrounding Variants

1 paper

NM_133471.4

p.L11Q

c.32T>A

1 paper

NM_133471.4

p.L12L

c.36A>G

1 paper

NM_133471.4

p.A20T

c.58G>A

1 paper

NM_133471.4

p.S34delFs

c.100_101delGA

1 paper

NM_133471.4

p.P37P

c.111A>G

1 paper

NM_133471.4

p.R41*

c.121C>T

1 paper

NM_133471.4

p.S54insFs

c.161_162ins4

1 paper

NM_133471.4

p.S54fs

c.160_161fs

1 paper

NM_133471.4

p.P84P

c.252A>G

1 paper

NM_133471.4

p.N88Y

c.262A>T

1 paper

NM_133471.4

p.Q100_Q101del1

c.300_302delTGC

1 paper

NM_133471.4

p.Q100_Q101del2

c.298_302del6