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.R401Q

c.1202G>A

Surrounding Variants

1 paper

NM_001394154.1

p.R401W

c.1201C>T

1 paper

NM_001394154.1

p.A402P

c.1204G>C

1 paper

NM_001394154.1

p.A402S

c.1204G>T

1 paper

NM_001394154.1

p.M400insFs

c.1199_1200insCG

1 paper

NM_001394154.1

p.M400V

c.1198A>G

1 paper

NM_001394154.1

p.M400fs

c.1198_1199fs

3 papers

NM_001394154.1

p.R403C

c.1207C>T

2 papers

NM_001394154.1

p.R403H

c.1208G>A

1 paper

NM_001394154.1

p.R403_F405del0

c.1209_1214del6

1 paper

NM_001394154.1

p.A404T

c.1210G>A

1 paper

NM_001394154.1

p.A404S

c.1210G>T

1 paper

NM_001394154.1

p.E398A

c.1193A>C