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.G654R

c.1960G>C

Surrounding Variants

1 paper

NM_001145638.3

p.G654R

c.1960G>A

1 paper

NM_001145638.3

p.A653A

c.1959C>T

1 paper

NM_001145638.3

p.A674A

c.2022G>A

1 paper

NM_001145638.3

p.R615L

c.1844G>T

2 papers

NM_001145638.3

p.Q614K

c.1840C>A

1 paper

NM_001145638.3

p.R587*

c.1759C>T

1 paper

NM_001145638.3

p.E549K

c.1645G>A

1 paper

NM_001145638.3

p.P546S

c.1636C>T

1 paper

NM_001145638.3

p.T532T

c.1596C>T

1 paper

NM_001145638.3

p.T528M

c.1583C>T

1 paper

NM_001145638.3

p.E526K

c.1576G>A

1 paper

NM_001145638.3

p.T503A

c.1507A>G