Varaico: Literature-Extracted Genetic Variants

Gene:RABEP1
Variant:p.R845W

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
2 papers
NM_004703.6
p.R845W
c.2533C>T
Surrounding Variants
1 paper
NM_004703.6
p.I835_R836insFs
c.2505_2506ins4
1 paper
NM_004703.6
p.R834W
c.2500C>T
1 paper
NM_004703.6
p.E833_R834del2
c.2497_2501del6
1 paper
NM_004703.6
p.Q831R
c.2492A>G
1 paper
NM_004703.6
p.Q795K
c.2383C>A
1 paper
NM_004703.6
p.E786E
c.2358G>A
1 paper
NM_004703.6
p.K784T
c.2351A>C
1 paper
NM_004703.6
p.L769L
c.2307T>C
1 paper
NM_004703.6
p.G756V
c.2267G>T
1 paper
NM_004703.6
p.L719L
c.2157A>G
1 paper
NM_004703.6
p.L707_F708insFs
c.2121_2122insT
1 paper
NM_004703.6
p.V698I
c.2092G>A
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