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

5 papers

NM_013296.5

p.R637W

c.1909C>T

Surrounding Variants

1 paper

NM_013296.5

p.M643V

c.1927A>G

1 paper

NM_013296.5

p.D628V

c.1883A>T

1 paper

NM_013296.5

p.V626L

c.1876G>C

1 paper

NM_013296.5

p.V626L

c.1876G>T

1 paper

NM_013296.5

p.L649F

c.1945C>T

1 paper

NM_013296.5

p.P624L

c.1871C>T

1 paper

NM_013296.5

p.T620N

c.1859C>A

1 paper

NM_013296.5

p.P618fs

c.1852_1853fs

1 paper

NM_013296.5

p.L662_K663del1

c.1986_1988delAAA

1 paper

NM_013296.5

p.D664_Q667delFs

c.1991_2000del10

2 papers

NM_013296.5

p.S607C

c.1820C>G

1 paper

NM_013296.5

p.N668K

c.2004T>A