Varaico: Literature-Extracted Genetic Variants

Gene:RGS12
Variant:p.S22R

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.S22R
c.66T>G
Surrounding Variants
1 paper
NM_001394154.1
p.S22R
c.66T>A
2 papers
NM_001394154.1
p.S22N
c.65G>A
1 paper
NM_001394154.1
p.S22R
c.64A>C
2 papers
NM_001394154.1
p.R21Q
c.62G>A
1 paper
NM_001394154.1
p.R21G
c.61C>G
2 papers
NM_001394154.1
p.R21W
c.61C>T
1 paper
NM_001394154.1
p.V20M
c.58G>A
1 paper
NM_001394154.1
p.V20L
c.58G>C
1 paper
NM_001394154.1
p.V20L
c.58G>T
1 paper
NM_001394154.1
p.R19K
c.56G>A
1 paper
NM_001394154.1
p.A26T
c.76G>A
1 paper
NM_001394154.1
p.A26P
c.76G>C
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