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

5 papers

NM_001394067.2

p.E1357K

c.4069G>A

Surrounding Variants

1 paper

NM_001394067.2

p.E1331Q

c.3991G>C

1 paper

NM_014247.5

p.R1212*

c.3634C>T

NM_001394067.2

p.R1373*

c.4117C>T

1 paper

NM_001394067.2

p.S1386ins1

c.4157_4158insGGG

1 paper

NM_001394067.2

p.A1398_S1399insFs

c.4194_4195ins5

1 paper

NM_001394067.2

p.A1398_S1399ins2

c.4194_4195ins6

1 paper

NM_001394067.2

p.A1398_S1399insFs

c.4194_4195ins7

1 paper

NM_001394067.2

p.L1400insFs

c.4199_4200ins8

1 paper

NM_001394067.2

p.T1423M

c.4268C>T

1 paper

NM_001394067.2

p.G1436V

c.4307G>T

1 paper

NM_001394067.2

p.R1475K

c.4424G>A

1 paper

NM_001394067.2

p.S1477I

c.4430G>T

1 paper

NM_001394067.2

p.R1484L

c.4451G>T