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

1–12 of 175 variants

14 papers

NM_013296.5

p.R127*

c.379C>T

9 papers

NM_013296.5

p.Q562*

c.1684C>T

7 papers

NM_013296.5

p.E354_V355Splc

c.1062+1G>T

7 papers

NM_013296.5

p.S524_S525del1

c.1572_1574delTTC

7 papers

NM_013296.5

p.S554*

c.1661C>A

6 papers

NM_013296.5

p.L248delFs

c.742delC

6 papers

NM_013296.5

p.G491delFs

c.1473delG

6 papers

NM_013296.5

p.R498*

c.1492C>T

5 papers

NM_013296.5

p.S525del1

c.1573_1574delTCC

5 papers

NM_013296.5

p.R637W

c.1909C>T

4 papers

NM_013296.5

p.R127Q

c.380G>A

4 papers

NM_013296.5

p.S554*

c.1661C>G