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.R2insFs

c.4_5insGG

Surrounding Variants

1 paper

NM_012294.5

p.M1delFs

c.2delA

1 paper

NM_012294.5

p.V5L

c.13G>C

1 paper

NM_012294.5

p.V5V

c.15G>A

1 paper

NM_012294.5

p.P12Q

c.35C>A

1 paper

NM_012294.5

p.C14C

c.42C>T

1 paper

NM_012294.5

p.S16delFs

c.47_48delGC

1 paper

NM_012294.5

p.A18P

c.52G>C

1 paper

NM_012294.5

p.V25E

c.74T>A

1 paper

NM_012294.5

p.G30D

c.89G>A

1 paper

NM_012294.5

p.L32M

c.94C>A

1 paper

NM_012294.5

p.E40K

c.118G>A

1 paper

NM_012294.5

p.A48P

c.142G>C