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

1–12 of 110 variants

8 papers

NM_014504.3

p.Q79L

c.236A>T

3 papers

NM_014504.3

p.K20E

c.58A>G

3 papers

NM_014504.3

p.A58G

c.173C>G

2 papers

NM_014504.3

p.K4N

c.12G>C

2 papers

NM_014504.3

p.R8*

c.22C>T

2 papers

NM_014504.3

p.V12E

c.35T>A

2 papers

NM_014504.3

p.C181S

c.541T>A

2 papers

NM_014504.3

p.C181S

c.542G>C

2 papers

NM_014504.3

p.A190T

c.568G>A

2 papers

NM_014504.3

p.P262L

c.785C>T

2 papers

NM_014504.3

p.D313A

c.938A>C

2 papers

NM_014504.3

p.D314A

c.941A>C