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

Selected Variant

1 paper

NM_001145638.3

p.A41A

c.123G>A

Surrounding Variants

2 papers

NM_001145638.3

p.T46S

c.136A>T

1 paper

NM_001145638.3

p.V55M

c.163G>A

1 paper

NM_001145638.3

p.K90M

c.269A>T

1 paper

NM_001145638.3

p.D101G

c.302A>G

1 paper

NM_001145638.3

p.R102C

c.304C>T

1 paper

NM_001145638.3

p.K107*

c.319A>T

1 paper

NM_001145638.3

p.A125insFs

c.375dupT

1 paper

NM_001145638.3

p.R131W

c.391C>T

1 paper

NM_001145638.3

p.Q139*

c.415C>T

1 paper

NM_001145638.3

p.L149L

c.447C>G

1 paper

NM_001145638.3

p.N154N

c.462C>T

1 paper

NM_001145638.3

p.A158T

c.472G>A