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.T35A

c.103A>G

Surrounding Variants

2 papers

NM_001394154.1

p.T35M

c.104C>T

1 paper

NM_001394154.1

p.S37L

c.110C>T

1 paper

NM_001394154.1

p.G31D

c.92G>A

2 papers

NM_001394154.1

p.A30V

c.89C>T

1 paper

NM_001394154.1

p.A40T

c.118G>A

1 paper

NM_001394154.1

p.A30P

c.88G>C

1 paper

NM_001394154.1

p.R29G

c.85A>G

1 paper

NM_001394154.1

p.G28W

c.82G>T

3 papers

NM_001394154.1

p.R27Q

c.80G>A

1 paper

NM_001394154.1

p.R27P

c.80G>C

1 paper

NM_001394154.1

p.R27W

c.79C>T

1 paper

NM_001394154.1

p.V43M

c.127G>A