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

7 papers

NM_013296.5

p.E354_V355Splc

c.1062+1G>T

Surrounding Variants

3 papers

NM_013296.5

p.S352*

c.1055C>A

2 papers

NM_013296.5

p.S352*

c.1055C>G

1 paper

NM_013296.5

p.A345V

c.1034C>T

2 papers

NM_013296.5

p.A341T

c.1021G>A

1 paper

NM_013296.5

p.N337S

c.1010A>G

1 paper

NM_013296.5

p.G336*

c.1006G>T

2 papers

NM_013296.5

p.W326*

c.978G>A

2 papers

NM_013296.5

p.W326*

c.977G>A

1 paper

NM_013296.5

p.I319M

c.957T>G

2 papers

NM_013296.5

p.G356R

c.1066G>A

2 papers

NM_013296.5

p.G356R

c.1066G>C

3 papers

NM_013296.5

p.R365*

c.1093C>T