Varaico: Literature-Extracted Genetic Variants

Gene:RABEP1
Variant:p.A694T

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.A694T
c.2080G>A
Surrounding Variants
1 paper
NM_004703.6
p.A694V
c.2081C>T
1 paper
NM_004703.6
p.R692W
c.2074C>T
1 paper
NM_004703.6
p.V698I
c.2092G>A
1 paper
NM_004703.6
p.E686K
c.2056G>A
1 paper
NM_004703.6
p.R685R
c.2055T>C
1 paper
NM_004703.6
p.K683N
c.2049A>C
1 paper
NM_004703.6
p.K683N
c.2049A>T
1 paper
NM_004703.6
p.K683I
c.2048A>T
1 paper
NM_004703.6
p.L707_F708insFs
c.2121_2122insT
1 paper
NM_004703.6
p.A676E
c.2027C>A
1 paper
NM_004703.6
p.L719L
c.2157A>G
1 paper
NM_004703.6
p.G756V
c.2267G>T
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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."