Varaico: Literature-Extracted Genetic Variants

Gene:RABEP1

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
1–12 of 106 variants
3 papers
NM_004703.6
p.M628I
c.1884G>A
3 papers
NM_004703.6
p.M628I
c.1884G>C
3 papers
NM_004703.6
p.M628I
c.1884G>T
2 papers
NM_004703.6
p.R30H
c.89G>A
2 papers
NM_004703.6
p.Q65L
c.194A>T
2 papers
NM_004703.6
p.T279M
c.836C>T
2 papers
NM_004703.6
p.R845W
c.2533C>T
1 paper
NM_004703.6
p.M1_A2insFs
c.3_4insA
1 paper
NM_004703.6
p.A7insFs
c.19_20insA
1 paper
NM_004703.6
p.S8Y
c.23C>A
1 paper
NM_004703.6
p.P10T
c.28C>A
1 paper
NM_004703.6
p.V12Splc
c.34+9112T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."