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.G100S

c.298G>A

Surrounding Variants

1 paper

NM_001394154.1

p.G100A

c.299G>C

1 paper

NM_001394154.1

p.R101C

c.301C>T

1 paper

NM_001394154.1

p.V99I

c.295G>A

3 papers

NM_001394154.1

p.R101H

c.302G>A

2 papers

NM_001394154.1

p.F102L

c.304T>C

1 paper

NM_001394154.1

p.E97G

c.290A>G

2 papers

NM_001394154.1

p.F102L

c.306C>A

2 papers

NM_001394154.1

p.F102L

c.306C>G

1 paper

NM_001394154.1

p.E103K

c.307G>A

2 papers

NM_001394154.1

p.E103Q

c.307G>C

1 paper

NM_001394154.1

p.E103G

c.308A>G

1 paper

NM_001394154.1

p.M93I

c.279G>A