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.E571K

c.1711G>A

Surrounding Variants

1 paper

NM_001100427.2

p.V572I

c.1714G>A

1 paper

NM_001100427.2

p.D574N

c.1720G>A

1 paper

NM_001100427.2

p.E588K

c.1762G>A

1 paper

NM_001100427.2

p.A510V

c.1529C>T

1 paper

NM_001100427.2

p.H494Y

c.1480C>T

1 paper

NM_001100427.2

p.D481fs

c.1441_1442fs

4 papers

NM_001100426.2

p.K481_D482Splc

c.1444-1G>A

NM_001100427.2

p.K480_D481Splc

c.1441-1G>A