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.A1113T

c.3337G>A

Surrounding Variants

1 paper

NM_001394154.1

p.A1111V

c.3332C>T

1 paper

NM_001394154.1

p.Q1116R

c.3347A>G

1 paper

NM_001394154.1

p.G1118S

c.3352G>A

6 papers

NM_001394154.1

p.P1120L

c.3359C>T

1 paper

NM_001394154.1

p.V1121L

c.3361G>C

1 paper

NM_001394154.1

p.V1121L

c.3361G>T

2 papers

NM_001394154.1

p.Q1123H

c.3369G>C

2 papers

NM_001394154.1

p.Q1123H

c.3369G>T

2 papers

NM_001394154.1

p.N1124S

c.3371A>G

1 paper

NM_001394154.1

p.A1126D

c.3377C>A

2 papers

NM_001394154.1

p.V1127I

c.3379G>A

1 paper

NM_001394154.1

p.S1130R

c.3388A>C