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.A456T

c.1366G>A

Surrounding Variants

1 paper

NM_001394154.1

p.A456V

c.1367C>T

2 papers

NM_001394154.1

p.S455N

c.1364G>A

1 paper

NM_001394154.1

p.G454D

c.1361G>A

1 paper

NM_001394154.1

p.D458E

c.1374C>A

1 paper

NM_001394154.1

p.D458E

c.1374C>G

2 papers

NM_001394154.1

p.G453V

c.1358G>T

2 papers

NM_001394154.1

p.G453R

c.1357G>A

1 paper

NM_001394154.1

p.G459S

c.1375G>A

2 papers

NM_001394154.1

p.G453R

c.1357G>C

2 papers

NM_001394154.1

p.P452T

c.1354C>A

4 papers

NM_001394154.1

p.V460M

c.1378G>A

2 papers

NM_001394154.1

p.G451S

c.1351G>A