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.S2C

c.4A>T

Surrounding Variants

1 paper

NM_014504.3

p.S2N

c.5G>A

1 paper

NM_014504.3

p.M1_S2insFs

c.3_4insT

1 paper

NM_014504.3

p.M1T

c.2T>C

1 paper

NM_014504.3

p.M1insFs

c.2_3insA

1 paper

NM_014504.3

p.K4R

c.11A>G

2 papers

NM_014504.3

p.K4N

c.12G>C

1 paper

NM_014504.3

p.R7S

c.19C>A

2 papers

NM_014504.3

p.R8*

c.22C>T

1 paper

NM_014504.3

p.R8Q

c.23G>A

1 paper

NM_014504.3

p.R8P

c.23G>C

2 papers

NM_014504.3

p.V12E

c.35T>A

1 paper

NM_014504.3

p.Q14H

c.42A>C