Varaico: Literature-Extracted Genetic Variants

GPSM1

74 papers

RefSeq Summary

G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which...

Pfam Domains

TPR_12aa 104–163UCSCTetratricopeptide repeat

TPR_12aa 187–241UCSCTetratricopeptide repeat

TPR_12aa 247–321UCSCTetratricopeptide repeat

TPR_12aa 287–361UCSCTetratricopeptide repeat

GoLocoaa 496–517UCSCGoLoco motif

Gene Aliases

HGNC Name

G protein signaling modulator 1

HGNC Alias Symbols

AGS3; DKFZP727I051

Papers

RefSeq ID

Protein change

DNA change

1–12 of 67 variants

11 papers

NM_001145638.3

p.S391L

c.1172C>T

3 papers

NM_001145638.3

p.S413delFs

c.1239delC

2 papers

NM_001145638.3

p.T46S

c.136A>T

2 papers

NM_001145638.3

p.R426Q

c.1277G>A

2 papers

NM_001145638.3

p.E467K

c.1399G>A

2 papers

NM_001145638.3

p.Q614K

c.1840C>A

1 paper

NM_001145638.3

p.M1I

c.3G>A

1 paper

NM_001145638.3

p.M1I

c.3G>T

1 paper

NM_001145638.3

p.G3V

c.8G>T

1 paper

NM_001145638.3

p.A5T

c.13G>A

1 paper

NM_001145638.3

p.P13P

c.39G>A

1 paper

NM_001145638.3

p.A41A

c.123G>A