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

3 papers

NM_001394154.1

p.V56M

c.166G>A

Surrounding Variants

1 paper

NM_001394154.1

p.V56L

c.166G>C

1 paper

NM_001394154.1

p.V56L

c.166G>T

1 paper

NM_001394154.1

p.F55V

c.163T>G

1 paper

NM_001394154.1

p.L58F

c.172C>T

1 paper

NM_001394154.1

p.L58P

c.173T>C

3 papers

NM_001394154.1

p.A53V

c.158C>T

1 paper

NM_001394154.1

p.A53T

c.157G>A

5 papers

NM_001394154.1

p.R59Q

c.176G>A

1 paper

NM_001394154.1

p.R59L

c.176G>T

1 paper

NM_001394154.1

p.P52R

c.155C>G

1 paper

NM_001394154.1

p.P52S

c.154C>T

1 paper

NM_001394154.1

p.G50W

c.148G>T