Varaico: Literature-Extracted Genetic Variants

RABGEF1

298 papers

RefSeq Summary

RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 1...

Pfam Domains

zf-A20aa 17–40UCSCA20-like zinc finger

DUF5601aa 158–220UCSCDomain of unknown function (DUF5601)

VPS9aa 268–371UCSCVacuolar sorting protein 9 (VPS9) domain

Gene Aliases

HGNC Name

RAB guanine nucleotide exchange factor 1

HGNC Alias Symbols

rabex-5; RABEX5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014504.3

p.K240R

c.719A>G

Surrounding Variants

1 paper

NM_014504.3

p.D230A

c.689A>C

1 paper

NM_014504.3

p.R218C

c.652C>T

1 paper

NM_014504.3

p.E212A

c.635A>C

1 paper

NM_014504.3

p.M208I

c.624G>C

1 paper

NM_014504.3

p.E205K

c.613G>A

1 paper

NM_014504.3

p.Q251K

c.751C>A

1 paper

NM_014504.3

p.Q251Q

c.753G>A

2 papers

NM_014504.3

p.P262L

c.785C>T

1 paper

NM_014504.3

p.M267_V268delFs

c.800_803del4

1 paper

NM_014504.3

p.T273A

c.817A>G

1 paper

NM_014504.3

p.T195P

c.583A>C

1 paper

NM_014504.3

p.M193delFs

c.578delT