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.L496I

c.1486T>A

Surrounding Variants

6 papers

NM_013296.5

p.R498*

c.1492C>T

1 paper

NM_013296.5

p.R498Q

c.1493G>A

2 papers

NM_013296.5

p.S501delFs

c.1501delA

1 paper

NM_013296.5

p.G491A

c.1472G>C

2 papers

NM_013296.5

p.S501fs

c.1501_1502fs

6 papers

NM_013296.5

p.G491delFs

c.1473delG

1 paper

NM_013296.5

p.S520A

c.1558T>G

3 papers

NM_013296.5

p.T523_S524del2

c.1567_1571del6

1 paper

NM_013296.5

p.T523A

c.1567A>G

7 papers

NM_013296.5

p.S524_S525del1

c.1572_1574delTTC

1 paper

NM_013296.5

p.S524_S525delFs

c.1572_1573delTT

5 papers

NM_013296.5

p.S525del1

c.1573_1574delTCC