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

2 papers

NM_001394154.1

p.E330G

c.989A>G

Surrounding Variants

2 papers

NM_001394154.1

p.G331S

c.991G>A

2 papers

NM_001394154.1

p.A332T

c.994G>A

1 paper

NM_001394154.1

p.E328D

c.984G>C

1 paper

NM_001394154.1

p.E328D

c.984G>T

2 papers

NM_001394154.1

p.A332D

c.995C>A

1 paper

NM_001394154.1

p.L333M

c.997C>A

1 paper

NM_001394154.1

p.Q327H

c.981G>C

1 paper

NM_001394154.1

p.Q327H

c.981G>T

1 paper

NM_001394154.1

p.R334W

c.1000C>T

1 paper

NM_001394154.1

p.R334Q

c.1001G>A

1 paper

NM_001394154.1

p.R334P

c.1001G>C

1 paper

NM_001394154.1

p.S324R

c.972C>A