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

Selected Variant

1 paper

NM_001100427.2

p.A335Fs

c.1003delinsGAFs

Surrounding Variants

1 paper

NM_001100427.2

p.G312*

c.934G>T

2 papers

NM_001100427.2

p.L289Fs

c.866delinsTAFs

2 papers

NM_001100427.2

p.D285Fs

c.855delinsTAGFs

1 paper

NM_001100427.2

p.D284H

c.850G>C

1 paper

NM_001100426.2

p.E284K

c.850G>A

2 papers

NM_001100427.2

p.E268_C269insFs

c.804_805insC

1 paper

NM_001100429.2

p.E214K

c.640G>A

1 paper

NM_001100427.2

p.V262F

c.784G>T

2 papers

NM_001100427.2

p.H352Y

c.1054C>T

1 paper

NM_001100427.2

p.K361R

c.1082A>G

1 paper

NM_001100427.2

p.E371*

c.1111G>T

2 papers

NM_001100427.2

p.T404delins

c.1211delinsTAGCCGTGGGTCC