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.S518L

c.1553C>T

Surrounding Variants

1 paper

NM_001394154.1

p.V519I

c.1555G>A

1 paper

NM_001394154.1

p.S517N

c.1550G>A

1 paper

NM_001394154.1

p.S517G

c.1549A>G

1 paper

NM_001394154.1

p.R516S

c.1548G>C

1 paper

NM_001394154.1

p.R516S

c.1548G>T

1 paper

NM_001394154.1

p.P520R

c.1559C>G

2 papers

NM_001394154.1

p.P521T

c.1561C>A

2 papers

NM_001394154.1

p.P521A

c.1561C>G

2 papers

NM_001394154.1

p.P521H

c.1562C>A

1 paper

NM_001394154.1

p.P521L

c.1562C>T

1 paper

NM_001394154.1

p.S514F

c.1541C>T

1 paper

NM_001394154.1

p.P512A

c.1534C>G