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.Y114C

c.341A>G

Surrounding Variants

1 paper

NM_001394154.1

p.L113P

c.338T>C

2 papers

NM_001394154.1

p.E115D

c.345A>C

2 papers

NM_001394154.1

p.E115D

c.345A>T

1 paper

NM_001394154.1

p.G116R

c.346G>A

1 paper

NM_001394154.1

p.G116R

c.346G>C

1 paper

NM_001394154.1

p.G112E

c.335G>A

1 paper

NM_001394154.1

p.G116E

c.347G>A

1 paper

NM_001394154.1

p.G112R

c.334G>A

1 paper

NM_001394154.1

p.G112R

c.334G>C

1 paper

NM_001394154.1

p.K117E

c.349A>G

1 paper

NM_001394154.1

p.G111R

c.331G>A

1 paper

NM_001394154.1

p.G111R

c.331G>C