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

1–12 of 1219 variants

6 papers

NM_001394154.1

p.P1120L

c.3359C>T

5 papers

NM_001394154.1

p.R59Q

c.176G>A

5 papers

NM_001394154.1

p.Q547H

c.1641G>C

5 papers

NM_001394154.1

p.Q547H

c.1641G>T

4 papers

NM_001394154.1

p.V460M

c.1378G>A

3 papers

NM_001394154.1

p.R27Q

c.80G>A

3 papers

NM_001394154.1

p.A53V

c.158C>T

3 papers

NM_001394154.1

p.V56M

c.166G>A

3 papers

NM_001394154.1

p.R101H

c.302G>A

3 papers

NM_001394154.1

p.E109D

c.327A>C

3 papers

NM_001394154.1

p.E109D

c.327A>T

3 papers

NM_001394154.1

p.E197A

c.590A>C