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

3 papers

NM_133471.4

p.R130W

c.388C>T

Surrounding Variants

1 paper

NM_133471.4

p.R137G

c.409A>G

1 paper

NM_133471.4

p.E142Q

c.424G>C

1 paper

NM_133471.4

p.L117L

c.351G>A

1 paper

NM_133471.4

p.Q100_Q101del2

c.298_302del6

1 paper

NM_133471.4

p.Q100_Q101del1

c.300_302delTGC

1 paper

NM_133471.4

p.E161_L162ins4

c.481_485ins12

1 paper

NM_133471.4

p.N88Y

c.262A>T

1 paper

NM_133471.4

p.P84P

c.252A>G

1 paper

NM_133471.4

p.S184S

c.552C>T

1 paper

NM_133471.4

p.R185*

c.553C>T

1 paper

NM_133471.4

p.E198K

c.592G>A

1 paper

NM_133471.4

p.S54fs

c.160_161fs