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.S338C

c.1013C>G

Surrounding Variants

2 papers

NM_133471.4

p.G339R

c.1015G>C

3 papers

NM_133471.4

p.G339R

c.1015G>A

1 paper

NM_133471.4

p.N337D

c.1009A>G

1 paper

NM_133471.4

p.R342P

c.1025G>C

1 paper

NM_133471.4

p.P346H

c.1037C>A

1 paper

NM_133471.4

p.E350Q

c.1048G>C

1 paper

NM_133471.4

p.P356L

c.1067C>T

1 paper

NM_133471.4

p.E367Q

c.1099G>C

1 paper

NM_133471.4

p.E372Q

c.1114G>C

1 paper

NM_133471.4

p.T300_E302del3

c.898_905del9

1 paper

NM_133471.4

p.A293A

c.879A>G

1 paper

NM_133471.4

p.A288V

c.863C>T