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

5 papers

NM_001394154.1

p.Q547H

c.1641G>C

Surrounding Variants

5 papers

NM_001394154.1

p.Q547H

c.1641G>T

2 papers

NM_001394154.1

p.C548R

c.1642T>C

1 paper

NM_001394154.1

p.C548Y

c.1643G>A

1 paper

NM_001394154.1

p.G549R

c.1645G>A

1 paper

NM_001394154.1

p.G549R

c.1645G>C

1 paper

NM_001394154.1

p.G549*

c.1645G>T

1 paper

NM_001394154.1

p.E545D

c.1635G>C

1 paper

NM_001394154.1

p.E545D

c.1635G>T

1 paper

NM_001394154.1

p.H550N

c.1648C>A

1 paper

NM_001394154.1

p.H550Y

c.1648C>T

1 paper

NM_001394154.1

p.R544Q

c.1631G>A

3 papers

NM_001394154.1

p.R544W

c.1630C>T