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.M317I

c.951G>T

Surrounding Variants

2 papers

NM_001394154.1

p.M317I

c.951G>A

2 papers

NM_001394154.1

p.M317I

c.951G>C

1 paper

NM_001394154.1

p.M317V

c.949A>G

1 paper

NM_001394154.1

p.M317L

c.949A>T

1 paper

NM_001394154.1

p.T319A

c.955A>G

1 paper

NM_001394154.1

p.T319S

c.955A>T

3 papers

NM_001394154.1

p.T319M

c.956C>T

1 paper

NM_001394154.1

p.D321N

c.961G>A

2 papers

NM_001394154.1

p.D321E

c.963C>A

2 papers

NM_001394154.1

p.D321E

c.963C>G

3 papers

NM_001394154.1

p.D322N

c.964G>A

1 paper

NM_001394154.1

p.G313R

c.937G>A