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.R494T

c.1481G>C

Surrounding Variants

1 paper

NM_001394154.1

p.D493A

c.1478A>C

1 paper

NM_001394154.1

p.T492N

c.1475C>A

1 paper

NM_001394154.1

p.D497G

c.1490A>G

1 paper

NM_001394154.1

p.H490R

c.1469A>G

1 paper

NM_001394154.1

p.L498P

c.1493T>C

1 paper

NM_001394154.1

p.H490Y

c.1468C>T

1 paper

NM_001394154.1

p.A489D

c.1466C>A

2 papers

NM_001394154.1

p.A489T

c.1465G>A

2 papers

NM_001394154.1

p.K500E

c.1498A>G

1 paper

NM_001394154.1

p.H501Y

c.1501C>T

1 paper

NM_001394154.1

p.H501R

c.1502A>G

1 paper

NM_001394154.1

p.F486C

c.1457T>G