Varaico: Literature-Extracted Genetic Variants

Gene:RABEP1
Variant:p.E166G

RABEP1

86 papers

Pfam Domains

Rabaptinaa 9–495UCSCRabaptin
Rab5-bindaa 533–839UCSCRabaptin-like protein

Gene Aliases

HGNC Name

rabaptin, RAB GTPase binding effector protein 1

HGNC Alias Symbols

neurocrescin; RAB5EP; RABPT5; rabaptin-5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004703.6
p.E166G
c.497A>G
Surrounding Variants
1 paper
NM_004703.6
p.L170*
c.509T>A
1 paper
NM_004703.6
p.L170*
c.509T>G
1 paper
NM_004703.6
p.N172K
c.516T>A
1 paper
NM_004703.6
p.N172K
c.516T>G
1 paper
NM_004703.6
p.E151K
c.451G>A
1 paper
NM_004703.6
p.T141A
c.421A>G
1 paper
NM_004703.6
p.R140*
c.418C>T
1 paper
NM_004703.6
p.M189V
c.565A>G
1 paper
NM_004703.6
p.A197G
c.590C>G
1 paper
NM_004703.6
p.K208R
c.623A>G
1 paper
NM_004703.6
p.E213A
c.638A>C
1 paper
NM_004703.6
p.T93delFs
c.278delC
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