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.I351T

c.1052T>C

Surrounding Variants

1 paper

NM_001394154.1

p.K350M

c.1049A>T

1 paper

NM_001394154.1

p.H349Q

c.1047C>A

1 paper

NM_001394154.1

p.H349Q

c.1047C>G

1 paper

NM_001394154.1

p.I355V

c.1063A>G

1 paper

NM_001394154.1

p.F347S

c.1040T>C

1 paper

NM_001394154.1

p.L346F

c.1038G>C

1 paper

NM_001394154.1

p.L346F

c.1038G>T

2 papers

NM_001394154.1

p.D345E

c.1035C>A

2 papers

NM_001394154.1

p.D345E

c.1035C>G

3 papers

NM_001394154.1

p.R357W

c.1069C>T

1 paper

NM_001394154.1

p.R357Q

c.1070G>A

2 papers

NM_001394154.1

p.R357L

c.1070G>T