Varaico: Literature-Extracted Genetic Variants

RAPGEF5

145 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 71–176UCSCRasGEF N-terminal motif

DEPaa 118–186UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)

RasGEF_Naa 221–326UCSCRasGEF N-terminal motif

RasGEFaa 348–525UCSCRasGEF domain

RasGEF_Naa 374–478UCSCRasGEF N-terminal motif

RasGEFaa 498–675UCSCRasGEF domain

Gene Aliases

HGNC Name

Rap guanine nucleotide exchange factor 5

HGNC Alias Symbols

KIAA0277; GFR; MR-GEF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012294.5

p.L320del1

c.958_960delCAA

Surrounding Variants

2 papers

NM_012294.5

p.A313E

c.938C>A

1 paper

NM_012294.5

p.L312L

c.934C>T

1 paper

NM_012294.5

p.V309insFs

c.926_927insG

1 paper

NM_012294.5

p.C295S

c.884G>C