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.R249S

c.747G>C

Surrounding Variants

1 paper

NM_001145638.3

p.R249S

c.747G>T

1 paper

NM_001145638.3

p.V267M

c.799G>A

1 paper

NM_001145638.3

p.A269T

c.805G>A

1 paper

NM_001145638.3

p.E201V

c.602A>T

1 paper

NM_001145638.3

p.A289A

c.867G>A

1 paper

NM_001145638.3

p.R307H

c.920G>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.A319T

c.955G>A

1 paper

NM_001145638.3

p.F191S

c.572T>C

1 paper

NM_001145638.3

p.C186Y

c.557G>A

1 paper

NM_001145638.3

p.L185Q

c.554T>A