Varaico: Literature-Extracted Genetic Variants

Gene:ENTREP2
Variant:p.V376insFs

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
Selected Variant
1 paper
NM_015307.2
p.V376insFs
c.1126_1127insCC
Surrounding Variants
2 papers
NM_015307.2
p.H375delins
c.1124_1125delinsGC
1 paper
NM_015307.2
p.V376fs
c.1126_1127fs
3 papers
NM_015307.2
p.H375R
c.1124A>G
1 paper
NM_015307.2
p.L371I
c.1111C>A
1 paper
NM_015307.2
p.P366L
c.1097C>T
1 paper
NM_015307.2
p.D358fs
c.1072_1073fs
1 paper
NM_015307.2
p.R393H
c.1178G>A
1 paper
NM_015307.2
p.D358delFs
c.1072delC
2 papers
NM_015307.2
p.P357L
c.1070C>T
1 paper
NM_015307.2
p.L343Q
c.1028T>A
1 paper
NM_015307.2
p.E429A
c.1286A>C
3 papers
NM_015307.2
p.V431A
c.1292T>C
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