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

3 papers

NM_014504.3

p.K20E

c.58A>G

Surrounding Variants

1 paper

NM_014504.3

p.K21E

c.61A>G

1 paper

NM_014504.3

p.L18M

c.52C>A

1 paper

NM_014504.3

p.G22R

c.64G>A

1 paper

NM_014504.3

p.G22delFs

c.65_66delGA

1 paper

NM_014504.3

p.L17L

c.51C>A

1 paper

NM_014504.3

p.L17H

c.50T>A

1 paper

NM_014504.3

p.C23S

c.67T>A

1 paper

NM_014504.3

p.C23S

c.68G>C

1 paper

NM_014504.3

p.G24S

c.70G>A

1 paper

NM_014504.3

p.Q14H

c.42A>C

1 paper

NM_014504.3

p.Q14H

c.42A>T

1 paper

NM_014504.3

p.Y25F

c.74A>T