Varaico: Literature-Extracted Genetic Variants

RAPGEF2

65 papers

RefSeq Summary

Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucle...

Pfam Domains

RasGEF_Naa 270–357UCSCRasGEF N-terminal motif

PDZaa 386–465UCSCPDZ domain

RAaa 606–692UCSCRas association (RalGDS/AF-6) domain

RasGEFaa 720–898UCSCRasGEF domain

Gene Aliases

HGNC Name

Rap guanine nucleotide exchange factor 2

HGNC Previous Symbol

PDZGEF1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001394067.2

p.D124N

c.370G>A

Surrounding Variants

1 paper

NM_001394067.2

p.Y129H

c.385T>C

1 paper

NM_001394067.2

p.R140Q

c.419G>A

1 paper

NM_001394067.2

p.R152delins

c.454_455delinsAG

1 paper

NM_001394067.2

p.K166R

c.497A>G