Varaico: Literature-Extracted Genetic Variants

Gene:ENTREP1
Variant:p.M485V

ENTREP1

27 papers

Pfam Domains

ENTREP_Caa 328–381UCSCEndosomal transmembrane epsin interactor C-terminal domain

Gene Aliases

HGNC Name

endosomal transmembrane epsin interactor 1

HGNC Previous Symbols

C9orf61; FAM189A2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001347995.2
p.M485V
c.1453A>G
Surrounding Variants
1 paper
NM_001347995.2
p.R438K
c.1313G>A
1 paper
NM_001347995.2
p.P420L
c.1259C>T
1 paper
NM_001347995.2
p.A400V
c.1199C>T
1 paper
NM_001347995.2
p.D388Splc
c.1163-7A>T
1 paper
NM_001347995.2
p.S553L
c.1658C>T
1 paper
NM_001347995.2
p.R554_R555del2
c.1660_1664del6
1 paper
NM_001347995.2
p.T386I
c.1157C>T
1 paper
NM_001347995.2
p.S368del1
c.1102_1104delTCA
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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."