Varaico: Literature-Extracted Genetic Variants

Gene:ENTREP2

ENTREP2

43 papers

Pfam Domains

CD20aa 34–199UCSCCD20-like family
ENTREP_Caa 483–536UCSCEndosomal transmembrane epsin interactor C-terminal domain

Gene Aliases

HGNC Name

endosomal transmembrane epsin interactor 2

HGNC Previous Symbol

FAM189A1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
3 papers
NM_015307.2
p.G314D
c.941G>A
3 papers
NM_015307.2
p.H375R
c.1124A>G
3 papers
NM_015307.2
p.V431A
c.1292T>C
3 papers
NM_015307.2
p.Q538P
c.1613A>C
2 papers
NM_015307.2
p.S312R
c.936T>G
2 papers
NM_015307.2
p.P357L
c.1070C>T
2 papers
NM_015307.2
p.H375delins
c.1124_1125delinsGC
1 paper
NM_015307.2
p.R28H
c.83G>A
1 paper
NM_015307.2
p.F51F
c.153C>T
1 paper
NM_015307.2
p.V92_I93Splc
c.277-16951G>C
1 paper
NM_015307.2
p.M97V
c.289A>G
1 paper
NM_015307.2
p.S100S
c.300T>A
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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."