Varaico: Literature-Extracted Genetic Variants

RGS12

128 papers

RefSeq Summary

This gene encodes a member of the 'regulator of G protein signaling' (RGS) gene family. The encoded protein may function as a guanosine triphosphatase (GTPase)-activating protein as well as a transcri...

Pfam Domains

PDZaa 22–96UCSCPDZ domain

RGSaa 715–831UCSCRegulator of G protein signaling domain

RGS12_us1aa 836–953UCSCUnstructured region of RGS12

RBDaa 963–1032UCSCRaf-like Ras-binding domain

RGS12_us2aa 1106–1180UCSCUnstructured region between RBD and GoLoco

GoLocoaa 1188–1209UCSCGoLoco motif

Gene Aliases

HGNC Name

regulator of G protein signaling 12

HGNC Previous Names

regulator of G-protein signalling 12; regulator of G-protein signaling 12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001394154.1

p.P295L

c.884C>T

Surrounding Variants

1 paper

NM_001394154.1

p.A296V

c.887C>T

2 papers

NM_001394154.1

p.E297K

c.889G>A

1 paper

NM_001394154.1

p.E293K

c.877G>A

2 papers

NM_001394154.1

p.A292T

c.874G>A

2 papers

NM_001394154.1

p.A292S

c.874G>T

1 paper

NM_001394154.1

p.V291M

c.871G>A

1 paper

NM_001394154.1

p.F301L

c.901T>C

1 paper

NM_001394154.1

p.F301L

c.903C>A

1 paper

NM_001394154.1

p.F301L

c.903C>G

1 paper

NM_001394154.1

p.S302G

c.904A>G

1 paper

NM_001394154.1

p.A303T

c.907G>A

1 paper

NM_001394154.1

p.D286E

c.858C>A