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.E433G

c.1298A>G

Surrounding Variants

1 paper

NM_001394154.1

p.E433A

c.1298A>C

1 paper

NM_001394154.1

p.K434N

c.1302G>C

1 paper

NM_001394154.1

p.K434N

c.1302G>T

1 paper

NM_001394154.1

p.N436S

c.1307A>G

1 paper

NM_001394154.1

p.N436I

c.1307A>T

1 paper

NM_001394154.1

p.H430N

c.1288C>A

1 paper

NM_001394154.1

p.F429L

c.1287C>A

1 paper

NM_001394154.1

p.F429L

c.1287C>G

2 papers

NM_001394154.1

p.R437W

c.1309C>T

3 papers

NM_001394154.1

p.R437Q

c.1310G>A

1 paper

NM_001394154.1

p.F429L

c.1285T>C

1 paper

NM_001394154.1

p.V438L

c.1312G>C