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.F83Y

c.248T>A

Surrounding Variants

8 papers

NM_014504.3

p.Q79L

c.236A>T

1 paper

NM_014504.3

p.E88G

c.263A>G

1 paper

NM_014504.3

p.G77R

c.229G>A

1 paper

NM_014504.3

p.G77R

c.229G>C

1 paper

NM_014504.3

p.K94E

c.280A>G

1 paper

NM_014504.3

p.S72N

c.215G>A

1 paper

NM_014504.3

p.T95A

c.283A>G

1 paper

NM_014504.3

p.F69Y

c.206T>A

1 paper

NM_014504.3

p.V98V

c.294T>C

1 paper

NM_014504.3

p.E66E

c.198A>G

1 paper

NM_014504.3

p.E66*

c.196G>T

1 paper

NM_014504.3

p.E65A

c.194A>C