Varaico: Literature-Extracted Genetic Variants

Gene:ENTREP1

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
1–12 of 36 variants
2 papers
NM_001347995.2
p.R47Q
c.140G>A
2 papers
NM_001347995.2
p.S130L
c.389C>T
2 papers
NM_001347995.2
p.M485V
c.1453A>G
1 paper
NM_001347995.2
p.C11W
c.33C>G
1 paper
NM_001347995.2
p.L17I
c.49C>A
1 paper
NM_001347995.2
p.A69_P70insFs
c.205_209dup5
1 paper
NM_001347995.2
p.A72V
c.215C>T
1 paper
NM_001347995.2
p.L73L
c.219C>A
1 paper
NM_001347995.2
p.A81G
c.242C>G
1 paper
NM_001347995.2
p.S89C
c.266C>G
1 paper
NM_001347995.2
p.L105R
c.314T>G
1 paper
NM_001347995.2
p.L107F
c.321G>C
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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."