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.Y186insFs

c.556_557insTC

Surrounding Variants

1 paper

NM_014504.3

p.F185F

c.555C>T

1 paper

NM_014504.3

p.H187Q

c.561C>A

1 paper

NM_014504.3

p.H187Q

c.561C>G

1 paper

NM_014504.3

p.A182V

c.545C>T

2 papers

NM_014504.3

p.A190T

c.568G>A

2 papers

NM_014504.3

p.C181S

c.542G>C

2 papers

NM_014504.3

p.C181S

c.541T>A

1 paper

NM_014504.3

p.R192S

c.576G>T

1 paper

NM_014504.3

p.M193delFs

c.578delT

1 paper

NM_014504.3

p.T195P

c.583A>C

1 paper

NM_014504.3

p.E205K

c.613G>A

1 paper

NM_014504.3

p.M208I

c.624G>C