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.A229V

c.686C>T

Surrounding Variants

1 paper

NM_001394154.1

p.V228M

c.682G>A

1 paper

NM_001394154.1

p.I231V

c.691A>G

1 paper

NM_001394154.1

p.V232M

c.694G>A

1 paper

NM_001394154.1

p.L226S

c.677T>C

1 paper

NM_001394154.1

p.G233S

c.697G>A

1 paper

NM_001394154.1

p.I225V

c.673A>G

2 papers

NM_001394154.1

p.L235V

c.703T>G

1 paper

NM_001394154.1

p.G236S

c.706G>A

1 paper

NM_001394154.1

p.L221F

c.663G>C

1 paper

NM_001394154.1

p.L221F

c.663G>T

1 paper

NM_001394154.1

p.L221W

c.662T>G

1 paper

NM_001394154.1

p.I238V

c.712A>G