Varaico: Literature-Extracted Genetic Variants

Gene:RABEP1
Variant:p.T279M

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.T279M
c.836C>T
Surrounding Variants
1 paper
NM_004703.6
p.H278delFs
c.833_834delAT
1 paper
NM_004703.6
p.H278del1
c.832_833delCAT
1 paper
NM_004703.6
p.L276S
c.827T>C
1 paper
NM_004703.6
p.Q272_H273del1
c.816_818delACA
1 paper
NM_004703.6
p.R270*
c.808C>T
1 paper
NM_004703.6
p.L310_R311insFs
c.930_931insT
1 paper
NM_004703.6
p.V262Splc
c.785-76A>G
1 paper
NM_004703.6
p.K218*
c.652A>T
1 paper
NM_004703.6
p.K216_V217Splc
c.649-60C>A
1 paper
NM_004703.6
p.N330del1
c.988_990delAAT
1 paper
NM_004703.6
p.N330K
c.990T>A
1 paper
NM_004703.6
p.N330K
c.990T>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."