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.A591V

c.1772C>T

Surrounding Variants

2 papers

NM_001394154.1

p.A591T

c.1771G>A

1 paper

NM_001394154.1

p.Q592R

c.1775A>G

1 paper

NM_001394154.1

p.P593T

c.1777C>A

2 papers

NM_001394154.1

p.P593S

c.1777C>T

2 papers

NM_001394154.1

p.P593L

c.1778C>T

1 paper

NM_001394154.1

p.P594Q

c.1781C>A

1 paper

NM_001394154.1

p.P594L

c.1781C>T

1 paper

NM_001394154.1

p.G588D

c.1763G>A

1 paper

NM_001394154.1

p.N596S

c.1787A>G

2 papers

NM_001394154.1

p.A597V

c.1790C>T

1 paper

NM_001394154.1

p.P598R

c.1793C>G

1 paper

NM_001394154.1

p.P598L

c.1793C>T