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.H204L

c.611A>T

Surrounding Variants

1 paper

NM_001394154.1

p.H204R

c.611A>G

1 paper

NM_001394154.1

p.H204Q

c.612T>A

1 paper

NM_001394154.1

p.H204Q

c.612T>G

1 paper

NM_001394154.1

p.D205G

c.614A>G

2 papers

NM_001394154.1

p.I203F

c.607A>T

1 paper

NM_001394154.1

p.V202A

c.605T>C

1 paper

NM_001394154.1

p.V202I

c.604G>A

1 paper

NM_001394154.1

p.S207L

c.620C>T

1 paper

NM_001394154.1

p.K201E

c.601A>G

1 paper

NM_001394154.1

p.S207S

c.621G>A

1 paper

NM_001394154.1

p.V208I

c.622G>A

1 paper

NM_001394154.1

p.S200P

c.598T>C