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.V382F

c.1144G>T

Surrounding Variants

2 papers

NM_001394154.1

p.V382I

c.1144G>A

1 paper

NM_001394154.1

p.L380H

c.1139T>A

2 papers

NM_001394154.1

p.L380F

c.1138C>T

1 paper

NM_001394154.1

p.S379F

c.1136C>T

1 paper

NM_001394154.1

p.Q384H

c.1152G>C

1 paper

NM_001394154.1

p.Q384H

c.1152G>T

1 paper

NM_001394154.1

p.A377E

c.1130C>A

2 papers

NM_001394154.1

p.A377V

c.1130C>T

1 paper

NM_001394154.1

p.S387A

c.1159T>G

1 paper

NM_001394154.1

p.P376Q

c.1127C>A

1 paper

NM_001394154.1

p.P376L

c.1127C>T

1 paper

NM_001394154.1

p.P376S

c.1126C>T