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.L12*

c.35T>A

Surrounding Variants

1 paper

NM_001394154.1

p.L12F

c.36G>C

1 paper

NM_001394154.1

p.L12F

c.36G>T

1 paper

NM_001394154.1

p.P11S

c.31C>T

2 papers

NM_001394154.1

p.R10H

c.29G>A

1 paper

NM_001394154.1

p.G14V

c.41G>T

2 papers

NM_001394154.1

p.R10C

c.28C>T

1 paper

NM_001394154.1

p.P15S

c.43C>T

2 papers

NM_001394154.1

p.P15L

c.44C>T

1 paper

NM_001394154.1

p.K9E

c.25A>G

1 paper

NM_001394154.1

p.S16A

c.46T>G

1 paper

NM_001394154.1

p.S16L

c.47C>T

1 paper

NM_001394154.1

p.A7T

c.19G>A