ARFGEF1 Chromosome 8
ARF guanine nucleotide exchange factor 1
Upload your DNA to see your personal genotypes for variants in ARFGEF1.
What This Gene Does
ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
"Armadillo like helical domain containing|ArfGEF family"
Locus Type
gene with protein product
Location
8q13.2
Ensembl
ENSG00000066777
Associated Conditions (22)
Neurodevelopmental disorder
Developmental delay
impaired speech
and behavioral abnormalities
with or without seizures
Thymoma
Acute myeloid leukemia
Malignant tumor of esophagus
Neurodevelopmental delay
Intellectual disability
Focal-onset seizure
Delayed ability to walk
ARFGEF1-related disorder
Delayed speech and language development
Atypical behavior
Global developmental delay
DEVELOPMENTAL DELAY
IMPAIRED SPEECH
BEHAVIORAL ABNORMALITIES
AND SEIZURES
+2 more conditions
Key Variants
RS1805354051
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS200901179
Likely pathogenic
Developmental delay, impaired speech, and behavioral abnormalities
Health Risk
RS2128865599
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS2128870578
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS2128900324
Likely pathogenic
Intellectual disability, Focal-onset seizure, Intellectual disability
Health Risk
RS2129577314
Likely pathogenic
Delayed ability to walk, Delayed ability to walk
Health Risk
RS2129577321
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS2129578084
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS2491365757
Likely pathogenic
ARFGEF1-related disorder, ARFGEF1-related disorder
Health Risk
RS2491448044
Likely pathogenic
Developmental delay, impaired speech, and behavioral abnormalities
Health Risk
RS2491448473
Likely pathogenic
Developmental delay, impaired speech, and behavioral abnormalities
Health Risk
RS2491465476
Likely pathogenic
Developmental delay, impaired speech, and behavioral abnormalities
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1805354051 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS200901179 | Health Risk | Likely pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2128865599 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2128870578 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2128900324 | Health Risk | Likely pathogenic | Intellectual disability, Focal-onset seizure, Intellectual disability |
| RS2129577314 | Health Risk | Likely pathogenic | Delayed ability to walk, Delayed ability to walk |
| RS2129577321 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2129578084 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2491365757 | Health Risk | Likely pathogenic | ARFGEF1-related disorder, ARFGEF1-related disorder |
| RS2491448044 | Health Risk | Likely pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2491448473 | Health Risk | Likely pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2491465476 | Health Risk | Likely pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2491713504 | Health Risk | Likely pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2491942104 | Health Risk | Likely pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS771760657 | Health Risk | Likely pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS1308211020 | Health Risk | Pathogenic | Delayed speech and language development, Atypical behavior, Global developmental delay |
| RS146133956 | Health Risk | Pathogenic | Delayed speech and language development, Atypical behavior, Global developmental delay |
| RS150286262 | Health Risk | Pathogenic | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, BEHAVIORAL ABNORMALITIES |
| RS1563869264 | Health Risk | Pathogenic | Delayed speech and language development, Atypical behavior, Global developmental delay |
| RS1804841321 | Health Risk | Pathogenic | Delayed speech and language development, Atypical behavior, Global developmental delay |
| RS1805830692 | Health Risk | Pathogenic | Delayed speech and language development, Atypical behavior, Global developmental delay |
| RS1838287933 | Health Risk | Pathogenic | Global developmental delay, Delayed speech and language development, Atypical behavior |
| RS1839416809 | Health Risk | Pathogenic | Delayed speech and language development, Global developmental delay, Delayed speech and language development |
| RS1839888192 | Health Risk | Pathogenic | Delayed speech and language development, Atypical behavior, Global developmental delay |
| RS1840507738 | Health Risk | Pathogenic | Seizure, DEVELOPMENTAL DELAY, IMPAIRED SPEECH |
| RS1840585492 | Health Risk | Pathogenic | Delayed speech and language development, Atypical behavior, Global developmental delay |
| RS2491169378 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2491193245 | Health Risk | Pathogenic | — |
| RS2491301318 | Health Risk | Pathogenic | — |
| RS2491362699 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2491362882 | Health Risk | Pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2491447626 | Health Risk | Pathogenic | — |
| RS2491464614 | Health Risk | Pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS2491606436 | Health Risk | Pathogenic | — |
| RS2491650155 | Health Risk | Pathogenic | — |
| RS2491808665 | Health Risk | Pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS749942462 | Health Risk | Pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |
| RS1840520188 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Global developmental delay, Delayed speech and language development |
| RS774148781 | Health Risk | Pathogenic/Likely pathogenic | Developmental delay, impaired speech, and behavioral abnormalities |