Varaico: Literature-Extracted Genetic Variants

RAP1GDS1

51 papers

RefSeq Summary

The smg GDP dissociation stimulator (smgGDS) protein is a stimulatory GDP/GTP exchange protein with GTPase activity (Riess et al., 1993 [PubMed 8262526]).[supplied by OMIM, Feb 2010].

Pfam Domains

Armaa 81–118UCSCArmadillo/beta-catenin-like repeat

Armaa 169–211UCSCArmadillo/beta-catenin-like repeat

Armaa 346–390UCSCArmadillo/beta-catenin-like repeat

Armaa 479–519UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

Rap1 GTPase-GDP dissociation stimulator 1

HGNC Alias Symbol

SmgGDS

Papers

RefSeq ID

Protein change

DNA change

1–12 of 52 variants

3 papers

NM_001100426.2

p.K481_D482Splc

c.1444-1G>A

2 papers

NM_001100427.2

p.L23Fs

c.69delinsCGATCCCCCGAATCFs

2 papers

NM_001100427.2

p.I244_F245ins3

c.732_733ins9

2 papers

NM_001100427.2

p.E268_C269insFs

c.804_805insC

2 papers

NM_001100427.2

p.D285Fs

c.855delinsTAGFs

2 papers

NM_001100427.2

p.L289Fs

c.866delinsTAFs

2 papers

NM_001100427.2

p.H352Y

c.1054C>T

2 papers

NM_001100427.2

p.T404delins

c.1211delinsTAGCCGTGGGTCC

2 papers

NM_001100427.2

p.T404Fs

c.1211delinsTATAGFs

1 paper

NM_001100427.2

p.M1_D2insFs

c.3_4insA

1 paper

NM_001100427.2

p.T19N

c.56C>A

1 paper

NM_001100426.2

p.L28delFs

c.83delT