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.N71D

c.211A>G

Surrounding Variants

1 paper

NM_001394154.1

p.I70S

c.209T>G

1 paper

NM_001394154.1

p.V72M

c.214G>A

1 paper

NM_001394154.1

p.N68S

c.203A>G

1 paper

NM_001394154.1

p.K74E

c.220A>G

1 paper

NM_001394154.1

p.K74R

c.221A>G

1 paper

NM_001394154.1

p.K74N

c.222A>C

1 paper

NM_001394154.1

p.K74N

c.222A>T

1 paper

NM_001394154.1

p.A66V

c.197C>T

1 paper

NM_001394154.1

p.H77R

c.230A>G

1 paper

NM_001394154.1

p.I64L

c.190A>C

1 paper

NM_001394154.1

p.I64V

c.190A>G

1 paper

NM_001394154.1

p.I64L

c.190A>T