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.I27M

c.81A>G

Surrounding Variants

1 paper

NM_001394067.2

p.I27V

c.79A>G

1 paper

NM_001394067.2

p.Y29delFs

c.87delT

1 paper

NM_001394067.2

p.S30Y

c.89C>A

1 paper

NM_001394067.2

p.L46L

c.138T>C

1 paper

NM_001394067.2

p.T52N

c.155C>A