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.Q126R

c.377A>G

Surrounding Variants

1 paper

NM_013296.5

p.Q126*

c.376C>T

14 papers

NM_013296.5

p.R127*

c.379C>T

4 papers

NM_013296.5

p.R127Q

c.380G>A

1 paper

NM_013296.5

p.D130H

c.388G>C

1 paper

NM_013296.5

p.A121G

c.362C>G

1 paper

NM_013296.5

p.A121P

c.361G>C

1 paper

NM_013296.5

p.D137A

c.410A>C

1 paper

NM_013296.5

p.K138_V139Splc

c.414+2T>C

1 paper

NM_013296.5

p.N107Y

c.319A>T

1 paper

NM_013296.5

p.S105_G109delFs

c.313_326del14

1 paper

NM_013296.5

p.K103E

c.307A>G

1 paper

NM_013296.5

p.E101V

c.302A>T