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.R463T

c.1388G>C

Surrounding Variants

2 papers

NM_001394154.1

p.G464R

c.1390G>C

1 paper

NM_001394154.1

p.G462E

c.1385G>A

2 papers

NM_001394154.1

p.A465T

c.1393G>A

4 papers

NM_001394154.1

p.V460M

c.1378G>A

1 paper

NM_001394154.1

p.G459S

c.1375G>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.W468S

c.1403G>C

2 papers

NM_001394154.1

p.G469S

c.1405G>A

1 paper

NM_001394154.1

p.G469V

c.1406G>T

1 paper

NM_001394154.1

p.A470S

c.1408G>T

2 papers

NM_001394154.1

p.A470G

c.1409C>G