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

3 papers

NM_001145638.3

p.S413delFs

c.1239delC

Surrounding Variants

1 paper

NM_001145638.3

p.A414delFs

c.1242delG

2 papers

NM_001145638.3

p.R426Q

c.1277G>A

1 paper

NM_001145638.3

p.E427Q

c.1279G>C

1 paper

NM_001145638.3

p.L448P

c.1343T>C

1 paper

NM_001145638.3

p.P449S

c.1345C>T

1 paper

NM_001145638.3

p.P459P

c.1377G>A

2 papers

NM_001145638.3

p.E467K

c.1399G>A

1 paper

NM_001145638.3

p.P472P

c.1416G>T

1 paper

NM_001145638.3

p.A476T

c.1426G>A

1 paper

NM_001145638.3

p.D477N

c.1429G>A

1 paper

NM_001145638.3

p.D500D

c.1500C>T

1 paper

NM_001145638.3

p.T503A

c.1507A>G