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.P480S

c.1438C>T

Surrounding Variants

2 papers

NM_001394154.1

p.E481K

c.1441G>A

2 papers

NM_001394154.1

p.P478L

c.1433C>T

1 paper

NM_001394154.1

p.S483I

c.1448G>T

1 paper

NM_001394154.1

p.P485Q

c.1454C>A

1 paper

NM_001394154.1

p.P485R

c.1454C>G

1 paper

NM_001394154.1

p.P485L

c.1454C>T

1 paper

NM_001394154.1

p.G474E

c.1421G>A

1 paper

NM_001394154.1

p.F486C

c.1457T>G

2 papers

NM_001394154.1

p.T473N

c.1418C>A

2 papers

NM_001394154.1

p.A489T

c.1465G>A

1 paper

NM_001394154.1

p.A489D

c.1466C>A

2 papers

NM_001394154.1

p.A470G

c.1409C>G