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.N190D

c.568A>G

Surrounding Variants

1 paper

NM_001394154.1

p.P189T

c.565C>A

1 paper

NM_001394154.1

p.P191T

c.571C>A

1 paper

NM_001394154.1

p.N192T

c.575A>C

1 paper

NM_001394154.1

p.M193V

c.577A>G

1 paper

NM_001394154.1

p.I186V

c.556A>G

1 paper

NM_001394154.1

p.L194V

c.580C>G

1 paper

NM_001394154.1

p.S185R

c.555T>A

1 paper

NM_001394154.1

p.S185R

c.555T>G

1 paper

NM_001394154.1

p.S185R

c.553A>C

1 paper

NM_001394154.1

p.S195Y

c.584C>A

1 paper

NM_001394154.1

p.S195C

c.584C>G

1 paper

NM_001394154.1

p.H183Q

c.549T>A