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.P615L

c.1844C>T

Surrounding Variants

1 paper

NM_001394154.1

p.H616L

c.1847A>T

1 paper

NM_001394154.1

p.G614V

c.1841G>T

1 paper

NM_001394154.1

p.R617G

c.1849C>G

1 paper

NM_001394154.1

p.R617Q

c.1850G>A

1 paper

NM_001394154.1

p.R617L

c.1850G>T

1 paper

NM_001394154.1

p.N618S

c.1853A>G

2 papers

NM_001394154.1

p.R620Q

c.1859G>A

1 paper

NM_001394154.1

p.M609T

c.1826T>C

1 paper

NM_001394154.1

p.K623E

c.1867A>G

2 papers

NM_001394154.1

p.A606V

c.1817C>T

2 papers

NM_001394154.1

p.A606T

c.1816G>A

1 paper

NM_001394154.1

p.A606S

c.1816G>T