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_015597.6

p.P414delFs

c.1242delC

Surrounding Variants

1 paper

NM_015597.6

p.P414fs

c.1240_1241fs

1 paper

NM_015597.6

p.T415delFs

c.1243delA

1 paper

NM_015597.6

p.T415fs

c.1243_1244fs

11 papers

NM_001145638.3

p.S391L

c.1172C>T

1 paper

NM_001145638.3

p.D364Y

c.1090G>T

1 paper

NM_001145638.3

p.I358V

c.1072A>G

1 paper

NM_001145638.3

p.G327G

c.981C>T

1 paper

NM_001145638.3

p.A319T

c.955G>A

1 paper

NM_001145638.3

p.H312Q

c.936C>A

1 paper

NM_001145638.3

p.H312Q

c.936C>G

1 paper

NM_001145638.3

p.R307H

c.920G>A

1 paper

NM_001145638.3

p.A289A

c.867G>A