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.S567T

c.1700G>C

Surrounding Variants

1 paper

NM_013296.5

p.S567N

c.1700G>A

1 paper

NM_013296.5

p.P570Q

c.1709C>A

9 papers

NM_013296.5

p.Q562*

c.1684C>T

1 paper

NM_013296.5

p.R573C

c.1717C>T

1 paper

NM_013296.5

p.N577T

c.1730A>C

7 papers

NM_013296.5

p.S554*

c.1661C>A

4 papers

NM_013296.5

p.S554*

c.1661C>G

1 paper

NM_013296.5

p.M586insFs

c.1757_1758insG

1 paper

NM_013296.5

p.D589E

c.1767C>A

1 paper

NM_013296.5

p.D589E

c.1767C>G

1 paper

NM_013296.5

p.T544M

c.1631C>T

1 paper

NM_013296.5

p.D594N

c.1780G>A