Varaico: Literature-Extracted Genetic Variants

GPSM2

159 papers

RefSeq Summary

The protein encoded by this gene belongs to a family of proteins that modulate activation of G proteins, which transduce extracellular signals received by cell surface receptors into integrated cellul...

Pfam Domains

TPR_10aa 61–95UCSCTetratricopeptide repeat

TPR_7aa 204–239UCSCTetratricopeptide repeat

TPR_8aa 322–355UCSCTetratricopeptide repeat

GoLocoaa 490–511UCSCGoLoco motif

GoLocoaa 545–566UCSCGoLoco motif

GoLocoaa 595–616UCSCGoLoco motif

Gene Aliases

HGNC Name

G protein signaling modulator 2

HGNC Previous Symbol

DFNB82

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013296.5

p.E234*

c.700G>T

Surrounding Variants

1 paper

NM_013296.5

p.A232V

c.695C>T

1 paper

NM_013296.5

p.R228C

c.682C>T

1 paper

NM_013296.5

p.N247fs

c.739_740fs

6 papers

NM_013296.5

p.L248delFs

c.742delC

3 papers

NM_013296.5

p.G249fs

c.745_746fs

1 paper

NM_013296.5

p.Y252F

c.755A>T

1 paper

NM_013296.5

p.F254L

c.760T>C

1 paper

NM_013296.5

p.F254L

c.762T>A

1 paper

NM_013296.5

p.F254L

c.762T>G

1 paper

NM_013296.5

p.S262S

c.786G>A

1 paper

NM_013296.5

p.R203_A204delFs

c.607_610del4

1 paper

NM_013296.5

p.R198Q

c.593G>A